{"id":"https://openalex.org/W1968349406","doi":"https://doi.org/10.1093/nar/gku407","title":"A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies","display_name":"A web-based interactive framework to assist in the prioritization of disease candidate genes in whole-exome sequencing studies","publication_year":2014,"publication_date":"2014-05-06","ids":{"openalex":"https://openalex.org/W1968349406","doi":"https://doi.org/10.1093/nar/gku407","mag":"1968349406","pmid":"https://pubmed.ncbi.nlm.nih.gov/24803668"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gku407","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gku407","pdf_url":"https://academic.oup.com/nar/article-pdf/42/W1/W88/17423519/gku407.pdf","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://academic.oup.com/nar/article-pdf/42/W1/W88/17423519/gku407.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5004957030","display_name":"Alejandro Alem\u00e1n","orcid":"https://orcid.org/0000-0002-3942-1035"},"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/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":"Alejandro Alem\u00e1n","raw_affiliation_strings":["Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain","Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain","Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain","institution_ids":["https://openalex.org/I4210165109"]},{"raw_affiliation_string":"Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Computational Genomics Department, 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/A5050320389","display_name":"Francisco Garcia\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 Garcia-Garcia","raw_affiliation_strings":["Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computational Genomics Department, 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/A5044524656","display_name":"Francisco Salavert","orcid":null},"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/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 Salavert","raw_affiliation_strings":["Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain","Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain","Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain","institution_ids":["https://openalex.org/I4210165109"]},{"raw_affiliation_string":"Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Computational Genomics Department, 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/A5068938981","display_name":"Ignacio Medina","orcid":"https://orcid.org/0000-0003-0095-670X"},"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":"Ignacio Medina","raw_affiliation_strings":["Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain","institution_ids":["https://openalex.org/I4210165109"]}]},{"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/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/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":true,"raw_author_name":"Joaqu\u00edn Dopazo","raw_affiliation_strings":["Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain Functional Genomics Node, (INB) at CIPF, Valencia 46012, Spain jdopazo@cipf.es","Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain","Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain","Functional Genomics Node, (INB) at CIPF, Valencia 46012, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain Functional Genomics Node, (INB) at CIPF, Valencia 46012, Spain jdopazo@cipf.es","institution_ids":["https://openalex.org/I4210165109"]},{"raw_affiliation_string":"Bioinformatics of Rare Diseases (BIER), CIBER de Enfermedades Raras (CIBERER), Valencia 46010, Spain","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia 46012, Spain","institution_ids":["https://openalex.org/I4210165109"]},{"raw_affiliation_string":"Functional Genomics Node, (INB) at CIPF, Valencia 46012, Spain","institution_ids":["https://openalex.org/I4210165109"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5074140420"],"corresponding_institution_ids":["https://openalex.org/I4210111366","https://openalex.org/I4210165109"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":5.1243,"has_fulltext":true,"cited_by_count":42,"citation_normalized_percentile":{"value":0.95661486,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"42","issue":"W1","first_page":"W88","last_page":"W93"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9987000226974487,"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":0.9987000226974487,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9950000047683716,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9872999787330627,"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":0.8071935176849365},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.7501207590103149},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.6519006490707397},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6367312669754028},{"id":"https://openalex.org/keywords/indel","display_name":"Indel","score":0.5657781362533569},{"id":"https://openalex.org/keywords/context","display_name":"Context (archaeology)","score":0.5569787621498108},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5225117206573486},{"id":"https://openalex.org/keywords/identification","display_name":"Identification (biology)","score":0.5169615149497986},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.4709274172782898},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.4451954960823059},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.34804007411003113},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.33067992329597473},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.2903750538825989},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.2545080780982971},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.07053864002227783}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8071935176849365},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7501207590103149},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.6519006490707397},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6367312669754028},{"id":"https://openalex.org/C119054055","wikidata":"https://www.wikidata.org/wiki/Q1576681","display_name":"Indel","level":5,"score":0.5657781362533569},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.5569787621498108},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5225117206573486},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.5169615149497986},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.4709274172782898},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4451954960823059},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.34804007411003113},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.33067992329597473},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.2903750538825989},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.2545080780982971},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.07053864002227783},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","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/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","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":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","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":"D005796","descriptor_name":"Genes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","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":"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":"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":"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":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","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":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059472","descriptor_name":"Exome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1093/nar/gku407","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gku407","pdf_url":"https://academic.oup.com/nar/article-pdf/42/W1/W88/17423519/gku407.pdf","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:24803668","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24803668","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:europepmc.org:3221338","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4086071","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"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":null,"raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/nar/gku407","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gku407","pdf_url":"https://academic.oup.com/nar/article-pdf/42/W1/W88/17423519/gku407.pdf","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":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320321837","display_name":"Ministerio de Econom\u00eda y Competitividad","ror":"https://ror.org/034900433"},{"id":"https://openalex.org/F4320334923","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1968349406.pdf","grobid_xml":"https://content.openalex.org/works/W1968349406.grobid-xml"},"referenced_works_count":41,"referenced_works":["https://openalex.org/W1495927634","https://openalex.org/W1556386043","https://openalex.org/W1970106809","https://openalex.org/W1980740976","https://openalex.org/W1984068087","https://openalex.org/W1987754412","https://openalex.org/W2013318867","https://openalex.org/W2036210716","https://openalex.org/W2037476500","https://openalex.org/W2044433401","https://openalex.org/W2054185647","https://openalex.org/W2061596350","https://openalex.org/W2064348339","https://openalex.org/W2066649243","https://openalex.org/W2081660551","https://openalex.org/W2085436555","https://openalex.org/W2090247362","https://openalex.org/W2091494564","https://openalex.org/W2107420626","https://openalex.org/W2108234281","https://openalex.org/W2109372707","https://openalex.org/W2119180969","https://openalex.org/W2119892487","https://openalex.org/W2121645944","https://openalex.org/W2122732537","https://openalex.org/W2123699903","https://openalex.org/W2146973661","https://openalex.org/W2148811088","https://openalex.org/W2149992227","https://openalex.org/W2154866190","https://openalex.org/W2155448627","https://openalex.org/W2155943701","https://openalex.org/W2165180719","https://openalex.org/W2167283139","https://openalex.org/W2168133698","https://openalex.org/W2168303063","https://openalex.org/W2171777347","https://openalex.org/W2605068739","https://openalex.org/W2885727518","https://openalex.org/W4210767115","https://openalex.org/W6629757402"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W2785750911","https://openalex.org/W2043256480","https://openalex.org/W2106924416","https://openalex.org/W2772505697","https://openalex.org/W3083501552","https://openalex.org/W2400191746","https://openalex.org/W1983406990","https://openalex.org/W2484239316","https://openalex.org/W3024198590"],"abstract_inverted_index":{"Whole-exome":[0],"sequencing":[1],"has":[2],"become":[3],"a":[4,38,45,51,163],"fundamental":[5],"tool":[6],"for":[7,173],"the":[8,17,27,31,59,109,112,124,128,137,155,160,170],"discovery":[9],"of":[10,13,19,34,41,61,74,94,139,162],"disease-related":[11],"genes":[12],"familial":[14],"diseases":[15],"and":[16,66,79,87,127,150],"identification":[18,60],"somatic":[20],"driver":[21],"variants":[22,63,76,103,141],"in":[23,37,58,64,81,123,142,159,175,179],"cancer.":[24],"However,":[25],"finding":[26],"causal":[28],"mutation":[29],"among":[30],"enormous":[32],"background":[33],"individual":[35],"variability":[36],"small":[39],"number":[40,138],"samples":[42,86],"is":[43,189],"still":[44],"big":[46],"challenge.":[47],"Here":[48],"we":[49],"describe":[50],"web-based":[52],"tool,":[53],"BiERapp,":[54],"which":[55,180],"efficiently":[56],"helps":[57],"causative":[62],"family":[65,90],"sporadic":[67],"genetic":[68],"diseases.":[69],"The":[70],"program":[71],"reads":[72],"lists":[73],"predicted":[75],"(nucleotide":[77],"substitutions":[78],"indels)":[80],"affected":[82],"individuals":[83],"or":[84],"tumor":[85],"controls.":[88],"In":[89],"studies,":[91],"different":[92],"modes":[93],"inheritance":[95],"can":[96],"easily":[97],"be":[98],"defined":[99],"to":[100,133],"filter":[101],"out":[102,168],"that":[104,153],"do":[105],"not":[106],"segregate":[107],"with":[108],"disease":[110],"along":[111],"family.":[113],"Moreover,":[114],"BiERapp":[115,146,188],"integrates":[116],"additional":[117],"information":[118],"such":[119],"as":[120],"allelic":[121],"frequencies":[122],"general":[125],"population":[126],"most":[129],"popular":[130],"damaging":[131],"scores":[132],"further":[134],"narrow":[135],"down":[136],"putative":[140],"successive":[143],"filtering":[144,156],"steps.":[145],"provides":[147],"an":[148],"interactive":[149],"user-friendly":[151],"interface":[152],"implements":[154],"strategy":[157],"used":[158],"context":[161],"large-scale":[164],"genomic":[165],"project":[166],"carried":[167],"by":[169],"Spanish":[171],"Network":[172],"Research":[174],"Rare":[176],"Diseases":[177],"(CIBERER)":[178],"more":[181],"than":[182],"800":[183],"exomes":[184],"have":[185],"been":[186],"analyzed.":[187],"freely":[190],"available":[191],"at:":[192],"http://bierapp.babelomics.org/":[193]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":10},{"year":2014,"cited_by_count":2}],"updated_date":"2026-08-09T07:27:16.801131","created_date":"2025-10-10T00:00:00"}
