{"id":"https://openalex.org/W3091734690","doi":"https://doi.org/10.1093/nar/gkaa794","title":"CSVS, a crowdsourcing database of the Spanish population genetic variability","display_name":"CSVS, a crowdsourcing database of the Spanish population genetic variability","publication_year":2020,"publication_date":"2020-09-11","ids":{"openalex":"https://openalex.org/W3091734690","doi":"https://doi.org/10.1093/nar/gkaa794","mag":"3091734690","pmid":"https://pubmed.ncbi.nlm.nih.gov/32990755"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gkaa794","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkaa794","pdf_url":null,"source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1093/nar/gkaa794","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5068809376","display_name":"Mar\u00eda Pe\u00f1a-Chilet","orcid":"https://orcid.org/0000-0002-6445-9617"},"institutions":[{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"funder","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Mar\u00eda Pe\u00f1a-Chilet","raw_affiliation_strings":["Bioinformatics in Rare Diseases (BiER), Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Sevilla 41013, Spain","Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Bioinformatics in Rare Diseases (BiER), Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210111366","https://openalex.org/I2801357902"]},{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]},{"raw_affiliation_string":"Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210133602"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001929116","display_name":"Gema Rold\u00e1n","orcid":null},"institutions":[{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Gema Rold\u00e1n","raw_affiliation_strings":["Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055657693","display_name":"Javier P\u00e9rez-Florido","orcid":"https://orcid.org/0000-0002-0223-9889"},"institutions":[{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Javier Perez-Florido","raw_affiliation_strings":["Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","Functional Genomics Node, FPS/ELIXIR-ES, Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]},{"raw_affiliation_string":"Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210133602"]},{"raw_affiliation_string":"Functional Genomics Node, FPS/ELIXIR-ES, Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210153139"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047036875","display_name":"Francisco Ortu\u00f1o","orcid":"https://orcid.org/0000-0001-7424-1753"},"institutions":[{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]},{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Francisco M Ortu\u00f1o","raw_affiliation_strings":["Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","Functional Genomics Node, FPS/ELIXIR-ES, Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]},{"raw_affiliation_string":"Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210133602"]},{"raw_affiliation_string":"Functional Genomics Node, FPS/ELIXIR-ES, Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210153139"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088804009","display_name":"Rosario Carmona","orcid":"https://orcid.org/0000-0002-4235-2886"},"institutions":[{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Rosario Carmona","raw_affiliation_strings":["Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021602032","display_name":"Virginia Aquino","orcid":"https://orcid.org/0000-0002-2329-8159"},"institutions":[{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Virginia Aquino","raw_affiliation_strings":["Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060977707","display_name":"Daniel L\u00f3pez-L\u00f3pez","orcid":"https://orcid.org/0000-0001-7672-7335"},"institutions":[{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Daniel Lopez-Lopez","raw_affiliation_strings":["Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]},{"raw_affiliation_string":"Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210133602"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021802977","display_name":"Carlos Loucera","orcid":"https://orcid.org/0000-0001-9598-6965"},"institutions":[{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Carlos Loucera","raw_affiliation_strings":["Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]},{"raw_affiliation_string":"Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210133602"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027679430","display_name":"Jose L. Fern\u00e1ndez-Rueda","orcid":null},"institutions":[{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Jose L Fernandez-Rueda","raw_affiliation_strings":["Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042464299","display_name":"Asunci\u00f3n Gallego","orcid":null},"institutions":[{"id":"https://openalex.org/I4210143781","display_name":"Sistemas Gen\u00f3micos","ror":"https://ror.org/04vvfch80","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210143781"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Asunci\u00f3n Gallego","raw_affiliation_strings":["Sistemas Genomicos, Paterna, Valencia 46980, Spain"],"affiliations":[{"raw_affiliation_string":"Sistemas Genomicos, Paterna, Valencia 46980, Spain","institution_ids":["https://openalex.org/I4210143781"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050320389","display_name":"Francisco Garc\u00eda\u2010Garc\u00eda","orcid":"https://orcid.org/0000-0001-8354-5636"},"institutions":[{"id":"https://openalex.org/I4210165109","display_name":"Centro de Investigacion Principe Felipe","ror":"https://ror.org/05xr2yq54","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210165109"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Francisco Garc\u00eda-Garcia","raw_affiliation_strings":["Unidad de Bioinform\u00e1tica y Bioestad\u00edstica, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain"],"affiliations":[{"raw_affiliation_string":"Unidad de Bioinform\u00e1tica y Bioestad\u00edstica, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain","institution_ids":["https://openalex.org/I4210165109"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039310063","display_name":"Anna Gonz\u00e1lez\u2010Neira","orcid":"https://orcid.org/0000-0002-5421-2020"},"institutions":[{"id":"https://openalex.org/I4210089594","display_name":"Spanish National Cancer Research Centre","ror":"https://ror.org/00bvhmc43","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210089594"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Anna Gonz\u00e1lez-Neira","raw_affiliation_strings":["Human Genotyping Unit\u2013Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain"],"affiliations":[{"raw_affiliation_string":"Human Genotyping Unit\u2013Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain","institution_ids":["https://openalex.org/I4210089594"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007180095","display_name":"Guillermo Pita","orcid":"https://orcid.org/0000-0003-2393-0510"},"institutions":[{"id":"https://openalex.org/I4210089594","display_name":"Spanish National Cancer Research Centre","ror":"https://ror.org/00bvhmc43","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210089594"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Guillermo Pita","raw_affiliation_strings":["Human Genotyping Unit\u2013Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain"],"affiliations":[{"raw_affiliation_string":"Human Genotyping Unit\u2013Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain","institution_ids":["https://openalex.org/I4210089594"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076926326","display_name":"Roc\u00edo N\u00fa\u00f1ez\u2010Torres","orcid":"https://orcid.org/0000-0003-1752-2756"},"institutions":[{"id":"https://openalex.org/I4210089594","display_name":"Spanish National Cancer Research Centre","ror":"https://ror.org/00bvhmc43","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210089594"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Roc\u00edo N\u00fa\u00f1ez-Torres","raw_affiliation_strings":["Human Genotyping Unit\u2013Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain"],"affiliations":[{"raw_affiliation_string":"Human Genotyping Unit\u2013Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain","institution_ids":["https://openalex.org/I4210089594"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043902224","display_name":"Javier Santoyo\u2010L\u00f3pez","orcid":"https://orcid.org/0000-0003-1988-5059"},"institutions":[{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]},{"id":"https://openalex.org/I4210137845","display_name":"Edinburgh Genomics","ror":"https://ror.org/02z3r7t23","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210137845"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Javier Santoyo-L\u00f3pez","raw_affiliation_strings":["Edinburgh Genomics, The University of Edinburgh, Edinburgh EH9 3FL, UK"],"affiliations":[{"raw_affiliation_string":"Edinburgh Genomics, The University of Edinburgh, Edinburgh EH9 3FL, UK","institution_ids":["https://openalex.org/I4210137845","https://openalex.org/I98677209"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066333528","display_name":"Carmen Ayuso","orcid":"https://orcid.org/0000-0002-9242-7065"},"institutions":[{"id":"https://openalex.org/I4210129357","display_name":"Hospital Universitario Fundaci\u00f3n Jim\u00e9nez D\u00edaz","ror":"https://ror.org/049nvyb15","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210129357"]},{"id":"https://openalex.org/I63634437","display_name":"Universidad Aut\u00f3noma de Madrid","ror":"https://ror.org/01cby8j38","country_code":"ES","type":"education","lineage":["https://openalex.org/I63634437"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Carmen Ayuso","raw_affiliation_strings":["Department of Genetics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Genetics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain","institution_ids":["https://openalex.org/I4210129357","https://openalex.org/I63634437"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028520416","display_name":"Pablo M\u00ednguez","orcid":"https://orcid.org/0000-0003-4099-9421"},"institutions":[{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I63634437","display_name":"Universidad Aut\u00f3noma de Madrid","ror":"https://ror.org/01cby8j38","country_code":"ES","type":"education","lineage":["https://openalex.org/I63634437"]},{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"funder","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210129357","display_name":"Hospital Universitario Fundaci\u00f3n Jim\u00e9nez D\u00edaz","ror":"https://ror.org/049nvyb15","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210129357"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Pablo Minguez","raw_affiliation_strings":["Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid 28040, Spain","Department of Genetics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain"],"affiliations":[{"raw_affiliation_string":"Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid 28040, Spain","institution_ids":["https://openalex.org/I4210111366","https://openalex.org/I2801357902"]},{"raw_affiliation_string":"Department of Genetics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain","institution_ids":["https://openalex.org/I4210129357","https://openalex.org/I63634437"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045857759","display_name":"Almudena \u00c1vila\u2010Fern\u00e1ndez","orcid":null},"institutions":[{"id":"https://openalex.org/I4210129357","display_name":"Hospital Universitario Fundaci\u00f3n Jim\u00e9nez D\u00edaz","ror":"https://ror.org/049nvyb15","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210129357"]},{"id":"https://openalex.org/I63634437","display_name":"Universidad Aut\u00f3noma de Madrid","ror":"https://ror.org/01cby8j38","country_code":"ES","type":"education","lineage":["https://openalex.org/I63634437"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Almudena Avila-Fernandez","raw_affiliation_strings":["Department of Genetics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Genetics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain","institution_ids":["https://openalex.org/I4210129357","https://openalex.org/I63634437"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003411530","display_name":"Marta Cort\u00f3n","orcid":"https://orcid.org/0000-0003-0087-1626"},"institutions":[{"id":"https://openalex.org/I4210129357","display_name":"Hospital Universitario Fundaci\u00f3n Jim\u00e9nez D\u00edaz","ror":"https://ror.org/049nvyb15","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210129357"]},{"id":"https://openalex.org/I63634437","display_name":"Universidad Aut\u00f3noma de Madrid","ror":"https://ror.org/01cby8j38","country_code":"ES","type":"education","lineage":["https://openalex.org/I63634437"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Marta Corton","raw_affiliation_strings":["Department of Genetics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Genetics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain","institution_ids":["https://openalex.org/I4210129357","https://openalex.org/I63634437"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045732989","display_name":"Miguel A. Moreno\u2010Pelayo","orcid":"https://orcid.org/0000-0003-3839-5098"},"institutions":[{"id":"https://openalex.org/I2184545","display_name":"Instituto Cajal","ror":"https://ror.org/012gwbh42","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I2184545"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I4210127475","display_name":"Instituto Ram\u00f3n y Cajal de Investigaci\u00f3n Sanitaria","ror":"https://ror.org/03fftr154","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210127475"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Miguel \u00c1ngel Moreno-Pelayo","raw_affiliation_strings":["Servicio de Gen\u00e9tica, Ram\u00f3n y Cajal Institute of Health Research (IRYCIS) and Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid 28034, Spain"],"affiliations":[{"raw_affiliation_string":"Servicio de Gen\u00e9tica, Ram\u00f3n y Cajal Institute of Health Research (IRYCIS) and Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid 28034, Spain","institution_ids":["https://openalex.org/I4210111366","https://openalex.org/I2184545","https://openalex.org/I4210127475"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007013682","display_name":"Mat\u00edas Morin","orcid":"https://orcid.org/0000-0002-7985-592X"},"institutions":[{"id":"https://openalex.org/I4210127475","display_name":"Instituto Ram\u00f3n y Cajal de Investigaci\u00f3n Sanitaria","ror":"https://ror.org/03fftr154","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210127475"]},{"id":"https://openalex.org/I2184545","display_name":"Instituto Cajal","ror":"https://ror.org/012gwbh42","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I2184545"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Mat\u00edas Morin","raw_affiliation_strings":["Servicio de Gen\u00e9tica, Ram\u00f3n y Cajal Institute of Health Research (IRYCIS) and Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid 28034, Spain"],"affiliations":[{"raw_affiliation_string":"Servicio de Gen\u00e9tica, Ram\u00f3n y Cajal Institute of Health Research (IRYCIS) and Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid 28034, Spain","institution_ids":["https://openalex.org/I4210111366","https://openalex.org/I2184545","https://openalex.org/I4210127475"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049562564","display_name":"Alvaro Gallego\u2010Martinez","orcid":"https://orcid.org/0000-0002-6068-8965"},"institutions":[{"id":"https://openalex.org/I4210113665","display_name":"Instituto de Investigaci\u00f3n Biosanitaria de Granada","ror":"https://ror.org/026yy9j15","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210113665"]},{"id":"https://openalex.org/I4210142177","display_name":"Pfizer-University of Granada-Junta de Andaluc\u00eda Centre for Genomics and Oncological Research","ror":"https://ror.org/04hr99439","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210142177"]},{"id":"https://openalex.org/I173304897","display_name":"Universidad de Granada","ror":"https://ror.org/04njjy449","country_code":"ES","type":"education","lineage":["https://openalex.org/I173304897"]},{"id":"https://openalex.org/I4210116170","display_name":"Hospital Universitario Virgen de las Nieves","ror":"https://ror.org/02f01mz90","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210116170"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Alvaro Gallego-Martinez","raw_affiliation_strings":["Department of Otolaryngology, Instituto de Investigaci\u00f3n Biosanitaria, IBS. GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada 18016, Spain","Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer University of Granada, Granada 18016, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Otolaryngology, Instituto de Investigaci\u00f3n Biosanitaria, IBS. GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada 18016, Spain","institution_ids":["https://openalex.org/I4210113665","https://openalex.org/I173304897","https://openalex.org/I4210116170"]},{"raw_affiliation_string":"Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer University of Granada, Granada 18016, Spain","institution_ids":["https://openalex.org/I4210142177"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006047589","display_name":"Jos\u00e9 A. L\u00f3pez\u2010Esc\u00e1mez","orcid":"https://orcid.org/0000-0002-8583-1430"},"institutions":[{"id":"https://openalex.org/I4210113665","display_name":"Instituto de Investigaci\u00f3n Biosanitaria de Granada","ror":"https://ror.org/026yy9j15","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210113665"]},{"id":"https://openalex.org/I4210142177","display_name":"Pfizer-University of Granada-Junta de Andaluc\u00eda Centre for Genomics and Oncological Research","ror":"https://ror.org/04hr99439","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210142177"]},{"id":"https://openalex.org/I4210116170","display_name":"Hospital Universitario Virgen de las Nieves","ror":"https://ror.org/02f01mz90","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210116170"]},{"id":"https://openalex.org/I173304897","display_name":"Universidad de Granada","ror":"https://ror.org/04njjy449","country_code":"ES","type":"education","lineage":["https://openalex.org/I173304897"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Jose A Lopez-Escamez","raw_affiliation_strings":["Department of Otolaryngology, Instituto de Investigaci\u00f3n Biosanitaria, IBS. GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada 18016, Spain","Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer University of Granada, Granada 18016, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Otolaryngology, Instituto de Investigaci\u00f3n Biosanitaria, IBS. GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada 18016, Spain","institution_ids":["https://openalex.org/I4210113665","https://openalex.org/I173304897","https://openalex.org/I4210116170"]},{"raw_affiliation_string":"Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer University of Granada, Granada 18016, Spain","institution_ids":["https://openalex.org/I4210142177"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050254001","display_name":"Salud Borrego","orcid":"https://orcid.org/0000-0002-2513-6161"},"institutions":[{"id":"https://openalex.org/I79238269","display_name":"Universidad de Sevilla","ror":"https://ror.org/03yxnpp24","country_code":"ES","type":"education","lineage":["https://openalex.org/I79238269"]},{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Salud Borrego","raw_affiliation_strings":["Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville 41013, Spain","Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Seville 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville 41013, Spain","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Seville 41013, Spain","institution_ids":["https://openalex.org/I4210133602","https://openalex.org/I79238269"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085336232","display_name":"Guillermo Anti\u00f1olo","orcid":"https://orcid.org/0000-0002-2113-074X"},"institutions":[{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I79238269","display_name":"Universidad de Sevilla","ror":"https://ror.org/03yxnpp24","country_code":"ES","type":"education","lineage":["https://openalex.org/I79238269"]},{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Guillermo Anti\u00f1olo","raw_affiliation_strings":["Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville 41013, Spain","Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Seville 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville 41013, Spain","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Seville 41013, Spain","institution_ids":["https://openalex.org/I4210133602","https://openalex.org/I79238269"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069190834","display_name":"Jorge Amigo","orcid":"https://orcid.org/0000-0002-1362-2605"},"institutions":[{"id":"https://openalex.org/I4210123801","display_name":"Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica","ror":"https://ror.org/025h0r574","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210123801"]},{"id":"https://openalex.org/I4210158352","display_name":"Servicio Gallego de Salud","ror":"https://ror.org/0591s4t67","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158352"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Jorge Amigo","raw_affiliation_strings":["Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica, SERGAS, IDIS, Santiago de Compostela 15706, Spain"],"affiliations":[{"raw_affiliation_string":"Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica, SERGAS, IDIS, Santiago de Compostela 15706, Spain","institution_ids":["https://openalex.org/I4210123801","https://openalex.org/I4210158352"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013838060","display_name":"Josefa Salgado","orcid":"https://orcid.org/0000-0002-2764-8507"},"institutions":[{"id":"https://openalex.org/I4210117069","display_name":"Navarrabiomed","ror":"https://ror.org/03atdda90","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I4210117069"]},{"id":"https://openalex.org/I175051016","display_name":"Universidad Publica de Navarra","ror":"https://ror.org/02z0cah89","country_code":"ES","type":"education","lineage":["https://openalex.org/I175051016"]},{"id":"https://openalex.org/I4210097920","display_name":"Complejo Hospitalario de Navarra","ror":"https://ror.org/011787436","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210097920"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Josefa Salgado-Garrido","raw_affiliation_strings":["Navarrabiomed-IdiSNA, Complejo Hospitalario de Navarra, Universidad P\u00fablica de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Navarra 31008, Spain"],"affiliations":[{"raw_affiliation_string":"Navarrabiomed-IdiSNA, Complejo Hospitalario de Navarra, Universidad P\u00fablica de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Navarra 31008, Spain","institution_ids":["https://openalex.org/I4210117069","https://openalex.org/I4210097920","https://openalex.org/I175051016"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060697686","display_name":"Sara Pasalodos-S\u00e1nchez","orcid":null},"institutions":[{"id":"https://openalex.org/I175051016","display_name":"Universidad Publica de Navarra","ror":"https://ror.org/02z0cah89","country_code":"ES","type":"education","lineage":["https://openalex.org/I175051016"]},{"id":"https://openalex.org/I4210097920","display_name":"Complejo Hospitalario de Navarra","ror":"https://ror.org/011787436","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210097920"]},{"id":"https://openalex.org/I4210117069","display_name":"Navarrabiomed","ror":"https://ror.org/03atdda90","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I4210117069"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Sara Pasalodos-Sanchez","raw_affiliation_strings":["Navarrabiomed-IdiSNA, Complejo Hospitalario de Navarra, Universidad P\u00fablica de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Navarra 31008, Spain"],"affiliations":[{"raw_affiliation_string":"Navarrabiomed-IdiSNA, Complejo Hospitalario de Navarra, Universidad P\u00fablica de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Navarra 31008, Spain","institution_ids":["https://openalex.org/I4210117069","https://openalex.org/I4210097920","https://openalex.org/I175051016"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058663471","display_name":"Beatriz Morte","orcid":"https://orcid.org/0000-0003-0702-7815"},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"funder","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Beatriz Morte","raw_affiliation_strings":["Undiagnosed Rare Diseases Programme (ENoD). Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid 28029, Spain"],"affiliations":[{"raw_affiliation_string":"Undiagnosed Rare Diseases Programme (ENoD). Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid 28029, Spain","institution_ids":["https://openalex.org/I4210111366","https://openalex.org/I2801357902"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027004121","display_name":"F\u00e1tima Al\u2010Shahrour","orcid":"https://orcid.org/0000-0003-2373-769X"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F\u00e1tima Al-Shahrour","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034622775","display_name":"Rafael Artuch","orcid":"https://orcid.org/0000-0002-3422-9685"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rafael Artuch","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052211470","display_name":"Javier Ben\u0131\u0301tez","orcid":"https://orcid.org/0000-0002-0923-7202"},"institutions":[{"id":"https://openalex.org/I4210137845","display_name":"Edinburgh Genomics","ror":"https://ror.org/02z3r7t23","country_code":"GB","type":"facility","lineage":["https://openalex.org/I4210137845"]},{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Javier Benitez","raw_affiliation_strings":["Edinburgh Genomics, The University of Edinburgh, Edinburgh EH9 3FL, UK"],"affiliations":[{"raw_affiliation_string":"Edinburgh Genomics, The University of Edinburgh, Edinburgh EH9 3FL, UK","institution_ids":["https://openalex.org/I4210137845","https://openalex.org/I98677209"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067232796","display_name":"Lu\u00eds Casta\u00f1o","orcid":"https://orcid.org/0000-0003-0437-9401"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Luis Antonio Casta\u00f1o","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067573711","display_name":"Ignacio del Castillo","orcid":"https://orcid.org/0000-0003-1188-3665"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ignacio del Castillo","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087623088","display_name":"Aitor Delmiro","orcid":"https://orcid.org/0000-0003-2534-9324"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Aitor Delmiro","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031544799","display_name":"Carmen Espin\u00f3s","orcid":"https://orcid.org/0000-0003-4435-1809"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Carmina Espinos","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028138662","display_name":"R Estrada Gonz\u00e1lez","orcid":null},"institutions":[{"id":"https://openalex.org/I4210089594","display_name":"Spanish National Cancer Research Centre","ror":"https://ror.org/00bvhmc43","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210089594"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Roser Gonz\u00e1lez","raw_affiliation_strings":["Human Genotyping Unit\u2013Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain"],"affiliations":[{"raw_affiliation_string":"Human Genotyping Unit\u2013Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid 28029, Spain","institution_ids":["https://openalex.org/I4210089594"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033638665","display_name":"Daniel Grinberg","orcid":"https://orcid.org/0000-0001-9859-2590"},"institutions":[{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Daniel Grinberg","raw_affiliation_strings":["Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]},{"raw_affiliation_string":"Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210133602"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075466695","display_name":"Encarna Guill\u00e9n\u2010Navarro","orcid":"https://orcid.org/0000-0002-2915-7381"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Encarnaci\u00f3n Guill\u00e9n","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031807627","display_name":"Pablo Lapunzina","orcid":"https://orcid.org/0000-0002-6324-4825"},"institutions":[{"id":"https://openalex.org/I4210129357","display_name":"Hospital Universitario Fundaci\u00f3n Jim\u00e9nez D\u00edaz","ror":"https://ror.org/049nvyb15","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210129357"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"funder","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I63634437","display_name":"Universidad Aut\u00f3noma de Madrid","ror":"https://ror.org/01cby8j38","country_code":"ES","type":"education","lineage":["https://openalex.org/I63634437"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Pablo Lapunzina","raw_affiliation_strings":["Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid 28040, Spain","Department of Genetics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain"],"affiliations":[{"raw_affiliation_string":"Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid 28040, Spain","institution_ids":["https://openalex.org/I4210111366","https://openalex.org/I2801357902"]},{"raw_affiliation_string":"Department of Genetics, Instituto de Investigaci\u00f3n Sanitaria-Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Universidad Aut\u00f3noma de Madrid (IIS-FJD, UAM), Madrid 28040, Spain","institution_ids":["https://openalex.org/I4210129357","https://openalex.org/I63634437"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080452404","display_name":"Esther L\u00f3pez","orcid":"https://orcid.org/0000-0002-5051-5913"},"institutions":[{"id":"https://openalex.org/I4210116170","display_name":"Hospital Universitario Virgen de las Nieves","ror":"https://ror.org/02f01mz90","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210116170"]},{"id":"https://openalex.org/I173304897","display_name":"Universidad de Granada","ror":"https://ror.org/04njjy449","country_code":"ES","type":"education","lineage":["https://openalex.org/I173304897"]},{"id":"https://openalex.org/I4210142177","display_name":"Pfizer-University of Granada-Junta de Andaluc\u00eda Centre for Genomics and Oncological Research","ror":"https://ror.org/04hr99439","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210142177"]},{"id":"https://openalex.org/I4210113665","display_name":"Instituto de Investigaci\u00f3n Biosanitaria de Granada","ror":"https://ror.org/026yy9j15","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210113665"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Esther Lopez","raw_affiliation_strings":["Department of Otolaryngology, Instituto de Investigaci\u00f3n Biosanitaria, IBS. GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada 18016, Spain","Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer University of Granada, Granada 18016, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Otolaryngology, Instituto de Investigaci\u00f3n Biosanitaria, IBS. GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada 18016, Spain","institution_ids":["https://openalex.org/I4210113665","https://openalex.org/I173304897","https://openalex.org/I4210116170"]},{"raw_affiliation_string":"Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer University of Granada, Granada 18016, Spain","institution_ids":["https://openalex.org/I4210142177"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056424304","display_name":"Ram\u00f3n Mart\u00ed","orcid":"https://orcid.org/0000-0002-8273-9540"},"institutions":[{"id":"https://openalex.org/I4210116170","display_name":"Hospital Universitario Virgen de las Nieves","ror":"https://ror.org/02f01mz90","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210116170"]},{"id":"https://openalex.org/I4210142177","display_name":"Pfizer-University of Granada-Junta de Andaluc\u00eda Centre for Genomics and Oncological Research","ror":"https://ror.org/04hr99439","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210142177"]},{"id":"https://openalex.org/I4210113665","display_name":"Instituto de Investigaci\u00f3n Biosanitaria de Granada","ror":"https://ror.org/026yy9j15","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210113665"]},{"id":"https://openalex.org/I173304897","display_name":"Universidad de Granada","ror":"https://ror.org/04njjy449","country_code":"ES","type":"education","lineage":["https://openalex.org/I173304897"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Ram\u00f3n Mart\u00ed","raw_affiliation_strings":["Department of Otolaryngology, Instituto de Investigaci\u00f3n Biosanitaria, IBS. GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada 18016, Spain","Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer University of Granada, Granada 18016, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Otolaryngology, Instituto de Investigaci\u00f3n Biosanitaria, IBS. GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada 18016, Spain","institution_ids":["https://openalex.org/I4210113665","https://openalex.org/I173304897","https://openalex.org/I4210116170"]},{"raw_affiliation_string":"Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer University of Granada, Granada 18016, Spain","institution_ids":["https://openalex.org/I4210142177"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049848744","display_name":"Montserrat Mil\u00e0","orcid":"https://orcid.org/0000-0002-7906-0916"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Montserrat Mil\u00e1","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102857511","display_name":"Jos\u00e9 M. Mill\u00e1n","orcid":"https://orcid.org/0000-0002-7211-9129"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jos\u00e9 M\u00aa Mill\u00e1n","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004455611","display_name":"Virginia Nunes","orcid":"https://orcid.org/0000-0002-5747-9310"},"institutions":[{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Virginia Nunes","raw_affiliation_strings":["Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089487905","display_name":"Francesc Palau","orcid":"https://orcid.org/0000-0002-8635-5421"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Francesc Palau","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001813953","display_name":"Bel\u00e9n P\u00e9rez","orcid":"https://orcid.org/0000-0002-3190-1958"},"institutions":[{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]},{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Belen Perez","raw_affiliation_strings":["Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","Functional Genomics Node, FPS/ELIXIR-ES, Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210133602"]},{"raw_affiliation_string":"Functional Genomics Node, FPS/ELIXIR-ES, Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210153139"]},{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063346638","display_name":"Luis P\u00e9rez Jurado","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Luis P\u00e9rez Jurado","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028089976","display_name":"Rosario Perona","orcid":"https://orcid.org/0000-0002-2973-5153"},"institutions":[{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Rosario Perona","raw_affiliation_strings":["Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083264466","display_name":"Aurora Pujol","orcid":"https://orcid.org/0000-0002-9606-0600"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Aurora Pujol","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024670218","display_name":"Feliciano J. Ramos","orcid":"https://orcid.org/0000-0002-5732-2209"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Feliciano Ramos","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078416616","display_name":"Ant\u00f2nia Ribes","orcid":"https://orcid.org/0000-0002-2249-246X"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Antonia Ribes","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025134306","display_name":"Jordi Rosell","orcid":"https://orcid.org/0000-0002-6758-6291"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jordi Rosell","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063264536","display_name":"Eulalia Rovira","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eulalia Rovira","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085308743","display_name":"Jordi Surrall\u00e9s","orcid":"https://orcid.org/0000-0002-4041-7519"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jordi Surrall\u00e9s","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020376703","display_name":"Isabel Tejada","orcid":"https://orcid.org/0009-0007-5651-670X"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Isabel Tejada","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073454124","display_name":"Magdalena Ugarte","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Magdalena Ugarte","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077296737","display_name":"\u00c3\u0081ngel Carracedo","orcid":"https://orcid.org/0000-0003-1085-8986"},"institutions":[{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I4210158352","display_name":"Servicio Gallego de Salud","ror":"https://ror.org/0591s4t67","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210158352"]},{"id":"https://openalex.org/I200284239","display_name":"Universidade de Santiago de Compostela","ror":"https://ror.org/030eybx10","country_code":"ES","type":"education","lineage":["https://openalex.org/I200284239"]},{"id":"https://openalex.org/I4210123801","display_name":"Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica","ror":"https://ror.org/025h0r574","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210123801"]},{"id":"https://openalex.org/I4210111807","display_name":"Center for Research in Molecular Medicine and Chronic Diseases","ror":"https://ror.org/0280bnq76","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111807"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"\u00c1ngel Carracedo","raw_affiliation_strings":["Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica, SERGAS, IDIS, Santiago de Compostela 15706, Spain","Grupo de Medicina Xen\u00f3mica, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela, Santiago de Compostela, Espa\u00f1a"],"affiliations":[{"raw_affiliation_string":"Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica, SERGAS, IDIS, Santiago de Compostela 15706, Spain","institution_ids":["https://openalex.org/I4210123801","https://openalex.org/I4210158352"]},{"raw_affiliation_string":"Grupo de Medicina Xen\u00f3mica, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela, Santiago de Compostela, Espa\u00f1a","institution_ids":["https://openalex.org/I4210111807","https://openalex.org/I4210111366","https://openalex.org/I200284239"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102745340","display_name":"\u00c1ngel Alonso","orcid":"https://orcid.org/0000-0001-5111-310X"},"institutions":[{"id":"https://openalex.org/I4210117069","display_name":"Navarrabiomed","ror":"https://ror.org/03atdda90","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I4210117069"]},{"id":"https://openalex.org/I175051016","display_name":"Universidad Publica de Navarra","ror":"https://ror.org/02z0cah89","country_code":"ES","type":"education","lineage":["https://openalex.org/I175051016"]},{"id":"https://openalex.org/I4210097920","display_name":"Complejo Hospitalario de Navarra","ror":"https://ror.org/011787436","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210097920"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"\u00c1ngel Alonso","raw_affiliation_strings":["Navarrabiomed-IdiSNA, Complejo Hospitalario de Navarra, Universidad P\u00fablica de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Navarra 31008, Spain"],"affiliations":[{"raw_affiliation_string":"Navarrabiomed-IdiSNA, Complejo Hospitalario de Navarra, Universidad P\u00fablica de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Navarra 31008, Spain","institution_ids":["https://openalex.org/I4210117069","https://openalex.org/I4210097920","https://openalex.org/I175051016"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5074140420","display_name":"Joaqu\u0131\u0301n Dopazo","orcid":"https://orcid.org/0000-0003-3318-120X"},"institutions":[{"id":"https://openalex.org/I4210086910","display_name":"Fundaci\u00f3n Progreso y Salud","ror":"https://ror.org/0048t7e91","country_code":"ES","type":"other","lineage":["https://openalex.org/I4210086910","https://openalex.org/I4210152975","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"funder","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Joaqu\u00edn Dopazo","raw_affiliation_strings":["Bioinformatics in Rare Diseases (BiER), Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Sevilla 41013, Spain","Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","Functional Genomics Node, FPS/ELIXIR-ES, Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain"],"affiliations":[{"raw_affiliation_string":"Bioinformatics in Rare Diseases (BiER), Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210111366","https://openalex.org/I2801357902"]},{"raw_affiliation_string":"Clinical Bioinformatics Area, Fundaci\u00f3n Progreso y Salud (FPS), Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210086910"]},{"raw_affiliation_string":"Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210133602"]},{"raw_affiliation_string":"Functional Genomics Node, FPS/ELIXIR-ES, Hospital Virgen del Roc\u00edo, Sevilla 41013, Spain","institution_ids":["https://openalex.org/I4210153139"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":60,"corresponding_author_ids":["https://openalex.org/A5074140420"],"corresponding_institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210086910","https://openalex.org/I4210111366","https://openalex.org/I4210133602","https://openalex.org/I4210153139"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":5.7536,"has_fulltext":true,"cited_by_count":55,"citation_normalized_percentile":{"value":0.96492358,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"49","issue":"D1","first_page":"D1130","last_page":"D1137"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9968000054359436,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9968000054359436,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9947999715805054,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11289","display_name":"Single-cell and spatial transcriptomics","score":0.9887999892234802,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.6916224360466003},{"id":"https://openalex.org/keywords/crowdsourcing","display_name":"Crowdsourcing","score":0.6588727235794067},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.5843337178230286},{"id":"https://openalex.org/keywords/imputation","display_name":"Imputation (statistics)","score":0.43846678733825684},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.354829877614975},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.2151382863521576},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.17177513241767883},{"id":"https://openalex.org/keywords/missing-data","display_name":"Missing data","score":0.12423813343048096}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6916224360466003},{"id":"https://openalex.org/C62230096","wikidata":"https://www.wikidata.org/wiki/Q275969","display_name":"Crowdsourcing","level":2,"score":0.6588727235794067},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5843337178230286},{"id":"https://openalex.org/C58041806","wikidata":"https://www.wikidata.org/wiki/Q1660484","display_name":"Imputation (statistics)","level":3,"score":0.43846678733825684},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.354829877614975},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.2151382863521576},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.17177513241767883},{"id":"https://openalex.org/C9357733","wikidata":"https://www.wikidata.org/wiki/Q6878417","display_name":"Missing data","level":2,"score":0.12423813343048096},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.0},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.0},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D013030","descriptor_name":"Spain","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013030","descriptor_name":"Spain","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013030","descriptor_name":"Spain","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D063045","descriptor_name":"Crowdsourcing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D063045","descriptor_name":"Crowdsourcing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D063045","descriptor_name":"Crowdsourcing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":9,"locations":[{"id":"doi:10.1093/nar/gkaa794","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkaa794","pdf_url":null,"source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:32990755","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32990755","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic acids research","raw_type":null},{"id":"pmh:oai:digibug.ugr.es:10481/66652","is_oa":true,"landing_page_url":"http://hdl.handle.net/10481/66652","pdf_url":null,"source":{"id":"https://openalex.org/S4306400567","display_name":"Institutional Repository of the University of Granada (University of Granada)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I173304897","host_organization_name":"Universidad de Granada","host_organization_lineage":["https://openalex.org/I173304897"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.ed.ac.uk:openaire/6d11e5e5-6da3-4443-8f9c-66bf91290697","is_oa":true,"landing_page_url":"https://www.research.ed.ac.uk/en/publications/6d11e5e5-6da3-4443-8f9c-66bf91290697","pdf_url":null,"source":{"id":"https://openalex.org/S4306400321","display_name":"Edinburgh Research Explorer (University of Edinburgh)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I98677209","host_organization_name":"University of Edinburgh","host_organization_lineage":["https://openalex.org/I98677209"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pe\u00f1a-Chilet, M, Rold\u00e1n, G, Perez-Florido, J, Ortu\u00f1o, F M, Carmona, R, Aquino, V, Lopez-Lopez, D, Loucera, C, Fernandez-Rueda, J L, Gallego, A, Gonz\u00e1lez-Neira, A, Pita, G, N\u00fa\u00f1ez-Torres, R, Santoyo-L\u00f3pez, J, Ayuso, C, Minguez, P, Avila-Fernandez, A, Corton, M, Moreno-Pelayo, M \u00c1, Morin, M, Gallego-Martinez, A, Lopez-Escamez, J A, Borrego, S, Anti\u00f1olo, G, Amigo, J, Salgado-Garrido, J, Pasalodos-Sanchez, S, Morte, B, Consortium, T S E C, Carracedo, \u00c1, Alonso, \u00c1 & Dopazo, J 2021, 'CSVS, a crowdsourcing database of the Spanish population genetic variability', Nucleic Acids Research, vol. 49, no. D1, pp. D1130-D1137. https://doi.org/10.1093/nar/gkaa794","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:repositori-api.upf.edu:10230/57224","is_oa":true,"landing_page_url":"http://hdl.handle.net/10230/57224","pdf_url":null,"source":{"id":"https://openalex.org/S4306402615","display_name":"Repositori digital de la UPF (Universitat Pompeu Fabra)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I170486558","host_organization_name":"Universitat Pompeu Fabra","host_organization_lineage":["https://openalex.org/I170486558"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:www.repositoriosalud.es:10668/16341","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7778906/pdf","pdf_url":null,"source":{"id":"https://openalex.org/S4377196114","display_name":"RISalud Institutional Health Repository of Andaluc\u00eda","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"research article"},{"id":"pmh:oai:digital.csic.es:10261/264616","is_oa":true,"landing_page_url":"http://hdl.handle.net/10261/264616","pdf_url":null,"source":null,"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"art\u00edculo"},{"id":"pmh:oai:pubmedcentral.nih.gov:7778906","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7778906","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Res","raw_type":"Text"},{"id":"pmh:oai:www.repositoriosalud.es:10668/4371","is_oa":true,"landing_page_url":"http://hdl.handle.net/10668/4371","pdf_url":null,"source":{"id":"https://openalex.org/S4377196114","display_name":"RISalud Institutional Health Repository of Andaluc\u00eda","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"research article"}],"best_oa_location":{"id":"doi:10.1093/nar/gkaa794","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkaa794","pdf_url":null,"source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.6000000238418579,"display_name":"Partnerships for the goals","id":"https://metadata.un.org/sdg/17"}],"awards":[{"id":"https://openalex.org/G1286963517","display_name":null,"funder_award_id":"PI17-1659","funder_id":"https://openalex.org/F4320321837","funder_display_name":"Ministerio de Econom\u00eda y Competitividad"},{"id":"https://openalex.org/G1318085641","display_name":null,"funder_award_id":"PI14-948","funder_id":"https://openalex.org/F4320321837","funder_display_name":"Ministerio de Econom\u00eda y Competitividad"},{"id":"https://openalex.org/G1422968182","display_name":null,"funder_award_id":"PI19/00321","funder_id":"https://openalex.org/F4320321837","funder_display_name":"Ministerio de Econom\u00eda y Competitividad"},{"id":"https://openalex.org/G2422923639","display_name":null,"funder_award_id":"SAF2017-88908-R","funder_id":"https://openalex.org/F4320321837","funder_display_name":"Ministerio de Econom\u00eda y Competitividad"},{"id":"https://openalex.org/G3126141807","display_name":null,"funder_award_id":"ACCI-06/07/0036","funder_id":"https://openalex.org/F4320321837","funder_display_name":"Ministerio de Econom\u00eda y Competitividad"},{"id":"https://openalex.org/G5205174506","display_name":null,"funder_award_id":"PT17/0009/0006","funder_id":"https://openalex.org/F4320321837","funder_display_name":"Ministerio de Econom\u00eda y Competitividad"},{"id":"https://openalex.org/G7535289602","display_name":null,"funder_award_id":"676559","funder_id":"https://openalex.org/F4320335322","funder_display_name":"European Regional Development Fund"}],"funders":[{"id":"https://openalex.org/F4320321837","display_name":"Ministerio de Econom\u00eda y Competitividad","ror":"https://ror.org/034900433"},{"id":"https://openalex.org/F4320332999","display_name":"Horizon 2020 Framework Programme","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320335322","display_name":"European Regional Development Fund","ror":"https://ror.org/00k4n6c32"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":69,"referenced_works":["https://openalex.org/W1175815497","https://openalex.org/W1563940013","https://openalex.org/W1605204992","https://openalex.org/W1969605785","https://openalex.org/W1973878786","https://openalex.org/W1974481128","https://openalex.org/W1980171391","https://openalex.org/W1982516282","https://openalex.org/W1987507232","https://openalex.org/W1990139627","https://openalex.org/W1993893889","https://openalex.org/W1995964126","https://openalex.org/W2036210716","https://openalex.org/W2038473742","https://openalex.org/W2045657877","https://openalex.org/W2049320250","https://openalex.org/W2057152418","https://openalex.org/W2068378322","https://openalex.org/W2078663610","https://openalex.org/W2093636770","https://openalex.org/W2096791516","https://openalex.org/W2098482403","https://openalex.org/W2109389832","https://openalex.org/W2116802246","https://openalex.org/W2119444539","https://openalex.org/W2119892487","https://openalex.org/W2122331119","https://openalex.org/W2132731072","https://openalex.org/W2143238378","https://openalex.org/W2144086069","https://openalex.org/W2146973661","https://openalex.org/W2155445544","https://openalex.org/W2160995259","https://openalex.org/W2161360183","https://openalex.org/W2163700807","https://openalex.org/W2167283139","https://openalex.org/W2171777347","https://openalex.org/W2171913066","https://openalex.org/W2195098119","https://openalex.org/W2238089877","https://openalex.org/W2256016639","https://openalex.org/W2259938310","https://openalex.org/W2295598076","https://openalex.org/W2345356016","https://openalex.org/W2417483443","https://openalex.org/W2484239316","https://openalex.org/W2510973425","https://openalex.org/W2511281583","https://openalex.org/W2515683381","https://openalex.org/W2519244818","https://openalex.org/W2569156823","https://openalex.org/W2594366209","https://openalex.org/W2611574484","https://openalex.org/W2770026599","https://openalex.org/W2792944991","https://openalex.org/W2804079128","https://openalex.org/W2885727518","https://openalex.org/W2898789672","https://openalex.org/W2914874661","https://openalex.org/W2922939447","https://openalex.org/W2963657382","https://openalex.org/W2963747872","https://openalex.org/W2971177113","https://openalex.org/W2996300852","https://openalex.org/W3029078495","https://openalex.org/W3102476541","https://openalex.org/W3211275679","https://openalex.org/W6633589378","https://openalex.org/W6772321426"],"related_works":["https://openalex.org/W3032998312","https://openalex.org/W1503094549","https://openalex.org/W4384486036","https://openalex.org/W135177976","https://openalex.org/W2337920774","https://openalex.org/W4318823662","https://openalex.org/W2886410948","https://openalex.org/W2025875869","https://openalex.org/W3207526114","https://openalex.org/W4286908577"],"abstract_inverted_index":{"The":[0],"knowledge":[1],"of":[2,6,11,28,50,102,105,136,165,189],"the":[3,7,26,35,89,106,117,150,161,190],"genetic":[4],"variability":[5,166,183],"local":[8,69,163,182],"population":[9,109,127],"is":[10,160,186],"utmost":[12],"importance":[13],"in":[14,59,121],"personalized":[15],"medicine":[16],"and":[17,48,72,173],"has":[18,56,145],"been":[19,57,78,146],"revealed":[20],"as":[21],"a":[22,60,170],"critical":[23],"factor":[24],"for":[25,73,113,133,157,177],"discovery":[27],"new":[29],"disease":[30],"variants.":[31],"Here,":[32],"we":[33],"present":[34],"Collaborative":[36],"Spanish":[37,52,108,152],"Variability":[38],"Server":[39],"(CSVS),":[40],"which":[41],"currently":[42],"contains":[43],"more":[44,94],"than":[45],"2000":[46],"genomes":[47],"exomes":[49],"unrelated":[51],"individuals.":[53],"This":[54,159],"database":[55,90],"generated":[58],"collaborative":[61],"crowdsourcing":[62,171],"effort":[63,172],"collecting":[64],"sequencing":[65],"data":[66,144],"produced":[67,168],"by":[68,80,169],"genomic":[70,143],"projects":[71],"other":[74],"purposes.":[75],"Sequences":[76],"have":[77],"grouped":[79],"ICD10":[81,95],"upper":[82],"categories.":[83,96],"A":[84],"web":[85],"interface":[86],"allows":[87],"querying":[88],"removing":[91],"one":[92],"or":[93],"In":[97,140],"this":[98,142],"way,":[99],"aggregated":[100],"counts":[101],"allele":[103],"frequencies":[104],"pseudo-control":[107,124],"can":[110,129,195],"be":[111,130,196],"obtained":[112],"diseases":[114],"belonging":[115],"to":[116,123,148,180],"category":[118],"removed.":[119],"Interestingly,":[120],"addition":[122],"studies,":[125],"some":[126],"studies":[128],"made,":[131],"as,":[132],"example,":[134],"prevalence":[135],"pharmacogenomic":[137],"variants,":[138],"etc.":[139],"addition,":[141],"used":[147],"define":[149],"first":[151,162],"Genome":[153],"Reference":[154],"Panel":[155],"(SGRP1.0)":[156],"imputation.":[158],"repository":[164],"entirely":[167],"constitutes":[174],"an":[175],"example":[176],"future":[178],"initiatives":[179],"characterize":[181],"worldwide.":[184],"CSVS":[185,194],"also":[187],"part":[188],"GA4GH":[191],"Beacon":[192],"network.":[193],"accessed":[197],"at:":[198],"http://csvs.babelomics.org/.":[199]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":8},{"year":2024,"cited_by_count":13},{"year":2023,"cited_by_count":10},{"year":2022,"cited_by_count":11},{"year":2021,"cited_by_count":9},{"year":2020,"cited_by_count":2}],"updated_date":"2026-03-10T16:38:18.471706","created_date":"2025-10-10T00:00:00"}