{"id":"https://openalex.org/W4410348619","doi":"https://doi.org/10.1093/bioinformatics/btaf305","title":"Missense variants pathogenicity annotation from homologous proteins","display_name":"Missense variants pathogenicity annotation from homologous proteins","publication_year":2025,"publication_date":"2025-05-01","ids":{"openalex":"https://openalex.org/W4410348619","doi":"https://doi.org/10.1093/bioinformatics/btaf305","pmid":"https://pubmed.ncbi.nlm.nih.gov/40366734"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btaf305","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btaf305","pdf_url":"https://academic.oup.com/bioinformatics/advance-article-pdf/doi/10.1093/bioinformatics/btaf305/63180606/btaf305.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"Bioinformatics","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/bioinformatics/advance-article-pdf/doi/10.1093/bioinformatics/btaf305/63180606/btaf305.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5117537108","display_name":"Gabriel Ruiz-Al\u00edas","orcid":null},"institutions":[{"id":"https://openalex.org/I115304662","display_name":"Universitat de Vic - Universitat Central de Catalunya","ror":"https://ror.org/006zjws59","country_code":"ES","type":"education","lineage":["https://openalex.org/I115304662"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Gabriel Ruiz-Al\u00edas","raw_affiliation_strings":["Department of Biosciences, Faculty of Sciences and Technology, University of Vic-Central University of Catalonia , Vic, Barcelona 08500,","Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), University of Vic-Central University of Catalonia , Vic, Barcelona 08500,","University of Vic-Central University of Catalonia Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), , Vic, Barcelona, 08500,","University of Vic-Central University of Catalonia Department of Biosciences, Faculty of Sciences and Technology, , Vic, Barcelona, 08500,"],"affiliations":[{"raw_affiliation_string":"Department of Biosciences, Faculty of Sciences and Technology, University of Vic-Central University of Catalonia , Vic, Barcelona 08500,","institution_ids":["https://openalex.org/I115304662"]},{"raw_affiliation_string":"Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), University of Vic-Central University of Catalonia , Vic, Barcelona 08500,","institution_ids":["https://openalex.org/I115304662"]},{"raw_affiliation_string":"University of Vic-Central University of Catalonia Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), , Vic, Barcelona, 08500,","institution_ids":["https://openalex.org/I115304662"]},{"raw_affiliation_string":"University of Vic-Central University of Catalonia Department of Biosciences, Faculty of Sciences and Technology, , Vic, Barcelona, 08500,","institution_ids":["https://openalex.org/I115304662"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5117537109","display_name":"Sergi Soldevila","orcid":null},"institutions":[{"id":"https://openalex.org/I115304662","display_name":"Universitat de Vic - Universitat Central de Catalunya","ror":"https://ror.org/006zjws59","country_code":"ES","type":"education","lineage":["https://openalex.org/I115304662"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Sergi Soldevila","raw_affiliation_strings":["Department of Biosciences, Faculty of Sciences and Technology, University of Vic-Central University of Catalonia , Vic, Barcelona 08500,","Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), University of Vic-Central University of Catalonia , Vic, Barcelona 08500,","University of Vic-Central University of Catalonia Department of Biosciences, Faculty of Sciences and Technology, , Vic, Barcelona, 08500,","University of Vic-Central University of Catalonia Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), , Vic, Barcelona, 08500,"],"affiliations":[{"raw_affiliation_string":"Department of Biosciences, Faculty of Sciences and Technology, University of Vic-Central University of Catalonia , Vic, Barcelona 08500,","institution_ids":["https://openalex.org/I115304662"]},{"raw_affiliation_string":"Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), University of Vic-Central University of Catalonia , Vic, Barcelona 08500,","institution_ids":["https://openalex.org/I115304662"]},{"raw_affiliation_string":"University of Vic-Central University of Catalonia Department of Biosciences, Faculty of Sciences and Technology, , Vic, Barcelona, 08500,","institution_ids":["https://openalex.org/I115304662"]},{"raw_affiliation_string":"University of Vic-Central University of Catalonia Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), , Vic, Barcelona, 08500,","institution_ids":["https://openalex.org/I115304662"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082354891","display_name":"Xavier Altafaj","orcid":"https://orcid.org/0000-0002-7595-0647"},"institutions":[{"id":"https://openalex.org/I4210122345","display_name":"Institute for Research in Biomedicine","ror":"https://ror.org/01z1gye03","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210122345","https://openalex.org/I4210132884","https://openalex.org/I4387153040"]},{"id":"https://openalex.org/I4210137803","display_name":"Biomedical Research Institute","ror":"https://ror.org/03yr0pg70","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210137803"]},{"id":"https://openalex.org/I4210160192","display_name":"Consorci Institut D'Investigacions Biomediques August Pi I Sunyer","ror":"https://ror.org/054vayn55","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210160192","https://openalex.org/I4387153040"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES","US"],"is_corresponding":false,"raw_author_name":"Xavier Altafaj","raw_affiliation_strings":["Agust\u00ed Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona , Barcelona 08036,","Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona , Barcelona 08036,","University of Barcelona, 08036 Barcelona, Spain. August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, , Barcelona, 08036,","University of Barcelona Agust\u00ed Pi i Sunyer Biomedical Research Institute (IDIBAPS), , Barcelona, 08036,"],"affiliations":[{"raw_affiliation_string":"Agust\u00ed Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona , Barcelona 08036,","institution_ids":["https://openalex.org/I4210160192"]},{"raw_affiliation_string":"Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona , Barcelona 08036,","institution_ids":["https://openalex.org/I4210122345"]},{"raw_affiliation_string":"University of Barcelona, 08036 Barcelona, Spain. August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, , Barcelona, 08036,","institution_ids":["https://openalex.org/I71999127","https://openalex.org/I4210160192"]},{"raw_affiliation_string":"University of Barcelona Agust\u00ed Pi i Sunyer Biomedical Research Institute (IDIBAPS), , Barcelona, 08036,","institution_ids":["https://openalex.org/I71999127","https://openalex.org/I4210160192","https://openalex.org/I4210137803"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086346963","display_name":"Arnau Cordom\u00ed","orcid":"https://orcid.org/0000-0002-3848-2928"},"institutions":[{"id":"https://openalex.org/I123044942","display_name":"Universitat Aut\u00f2noma de Barcelona","ror":"https://ror.org/052g8jq94","country_code":"ES","type":"education","lineage":["https://openalex.org/I123044942"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Arnau Cordom\u00ed","raw_affiliation_strings":["Department of Biochemistry and Molecular Biology, Faculty of Biosciences, Universitat Aut\u00f2noma de Barcelona (UAB) , Barcelona 08193,","Universitat Aut\u00f2noma de Barcelona (UAB) Department of Biochemistry and Molecular Biology, Faculty of Biosciences, , Cerdanyola del Vall\u00e8s, Barcelona, 08193,"],"affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Molecular Biology, Faculty of Biosciences, Universitat Aut\u00f2noma de Barcelona (UAB) , Barcelona 08193,","institution_ids":["https://openalex.org/I123044942"]},{"raw_affiliation_string":"Universitat Aut\u00f2noma de Barcelona (UAB) Department of Biochemistry and Molecular Biology, Faculty of Biosciences, , Cerdanyola del Vall\u00e8s, Barcelona, 08193,","institution_ids":["https://openalex.org/I123044942"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5063381971","display_name":"Mireia Olivella","orcid":"https://orcid.org/0000-0002-6035-3399"},"institutions":[{"id":"https://openalex.org/I115304662","display_name":"Universitat de Vic - Universitat Central de Catalunya","ror":"https://ror.org/006zjws59","country_code":"ES","type":"education","lineage":["https://openalex.org/I115304662"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Mireia Olivella","raw_affiliation_strings":["Department of Biosciences, Faculty of Sciences and Technology, University of Vic-Central University of Catalonia , Vic, Barcelona 08500,","Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), University of Vic-Central University of Catalonia , Vic, Barcelona 08500,","University of Vic-Central University of Catalonia Department of Biosciences, Faculty of Sciences and Technology, , Vic, Barcelona, 08500,","University of Vic-Central University of Catalonia Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), , Vic, Barcelona, 08500,"],"affiliations":[{"raw_affiliation_string":"Department of Biosciences, Faculty of Sciences and Technology, University of Vic-Central University of Catalonia , Vic, Barcelona 08500,","institution_ids":["https://openalex.org/I115304662"]},{"raw_affiliation_string":"Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), University of Vic-Central University of Catalonia , Vic, Barcelona 08500,","institution_ids":["https://openalex.org/I115304662"]},{"raw_affiliation_string":"University of Vic-Central University of Catalonia Department of Biosciences, Faculty of Sciences and Technology, , Vic, Barcelona, 08500,","institution_ids":["https://openalex.org/I115304662"]},{"raw_affiliation_string":"University of Vic-Central University of Catalonia Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), , Vic, Barcelona, 08500,","institution_ids":["https://openalex.org/I115304662"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5117537108"],"corresponding_institution_ids":["https://openalex.org/I115304662"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.12267449,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"41","issue":"5","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9986000061035156,"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":0.9986000061035156,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9860000014305115,"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":0.9743000268936157,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/missense-mutation","display_name":"Missense mutation","score":0.8868961334228516},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.661955714225769},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6397006511688232},{"id":"https://openalex.org/keywords/homologous-chromosome","display_name":"Homologous chromosome","score":0.6161128282546997},{"id":"https://openalex.org/keywords/pathogenicity","display_name":"Pathogenicity","score":0.5735981464385986},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5554130673408508},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.5339030027389526},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.486491858959198},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.4368704855442047},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.43257176876068115},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.4193423390388489},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.37941253185272217}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8868961334228516},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.661955714225769},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6397006511688232},{"id":"https://openalex.org/C64894306","wikidata":"https://www.wikidata.org/wiki/Q849622","display_name":"Homologous chromosome","level":3,"score":0.6161128282546997},{"id":"https://openalex.org/C64502627","wikidata":"https://www.wikidata.org/wiki/Q170065","display_name":"Pathogenicity","level":2,"score":0.5735981464385986},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5554130673408508},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5339030027389526},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.486491858959198},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.4368704855442047},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.43257176876068115},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4193423390388489},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.37941253185272217},{"id":"https://openalex.org/C89423630","wikidata":"https://www.wikidata.org/wiki/Q7193","display_name":"Microbiology","level":1,"score":0.0}],"mesh":[{"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":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","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":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1093/bioinformatics/btaf305","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btaf305","pdf_url":"https://academic.oup.com/bioinformatics/advance-article-pdf/doi/10.1093/bioinformatics/btaf305/63180606/btaf305.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:40366734","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40366734","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":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:dspace.uvic.cat:10854/180828","is_oa":true,"landing_page_url":"http://hdl.handle.net/10854/180828","pdf_url":"https://repositori.uvic-ucc.cat/bitstream/10854/180828/1/artconlli_a2025_olivella_mireia_missense.pdf","source":{"id":"https://openalex.org/S7407055356","display_name":"RIUVic","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":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12122210","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12122210","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":"Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btaf305","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btaf305","pdf_url":"https://academic.oup.com/bioinformatics/advance-article-pdf/doi/10.1093/bioinformatics/btaf305/63180606/btaf305.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Life in Land","score":0.7400000095367432,"id":"https://metadata.un.org/sdg/15"}],"awards":[{"id":"https://openalex.org/G1076797115","display_name":null,"funder_award_id":"co-funded","funder_id":"https://openalex.org/F4320335322","funder_display_name":"European Regional Development Fund"},{"id":"https://openalex.org/G1783691375","display_name":null,"funder_award_id":"AGAUR","funder_id":"https://openalex.org/F4320321505","funder_display_name":"Generalitat de Catalunya"},{"id":"https://openalex.org/G2631452109","display_name":null,"funder_award_id":"(ERDF)","funder_id":"https://openalex.org/F4320335322","funder_display_name":"European Regional Development Fund"},{"id":"https://openalex.org/G495392292","display_name":null,"funder_award_id":"FEDER","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G5556984391","display_name":null,"funder_award_id":"(ISCIII","funder_id":"https://openalex.org/F4320334923","funder_display_name":"Instituto de Salud Carlos III"},{"id":"https://openalex.org/G7667492786","display_name":null,"funder_award_id":"PI22/00515","funder_id":"https://openalex.org/F4320334923","funder_display_name":"Instituto de Salud Carlos III"},{"id":"https://openalex.org/G7694218106","display_name":null,"funder_award_id":"PI22/00515","funder_id":"https://openalex.org/F4320335322","funder_display_name":"European Regional Development Fund"},{"id":"https://openalex.org/G7779868532","display_name":null,"funder_award_id":"FEDER","funder_id":"https://openalex.org/F4320334923","funder_display_name":"Instituto de Salud Carlos III"},{"id":"https://openalex.org/G792669455","display_name":null,"funder_award_id":"607/C/2022","funder_id":"https://openalex.org/F4320310701","funder_display_name":"Fundaci\u00f3 la Marat\u00f3 de TV3"},{"id":"https://openalex.org/G8922915789","display_name":null,"funder_award_id":"(FEDER)","funder_id":"https://openalex.org/F4320335322","funder_display_name":"European Regional Development Fund"}],"funders":[{"id":"https://openalex.org/F4320310701","display_name":"Fundaci\u00f3 la Marat\u00f3 de TV3","ror":"https://ror.org/00t5xc355"},{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320321505","display_name":"Generalitat de Catalunya","ror":"https://ror.org/01bg62x04"},{"id":"https://openalex.org/F4320321595","display_name":"Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras","ror":"https://ror.org/0348bpk17"},{"id":"https://openalex.org/F4320323428","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57"},{"id":"https://openalex.org/F4320334830","display_name":"Ag\u00e8ncia de Gesti\u00f3 d'Ajuts Universitaris i de Recerca","ror":"https://ror.org/01n4pqe45"},{"id":"https://openalex.org/F4320334923","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886"},{"id":"https://openalex.org/F4320335322","display_name":"European Regional Development Fund","ror":"https://ror.org/00k4n6c32"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4410348619.pdf","grobid_xml":"https://content.openalex.org/works/W4410348619.grobid-xml"},"referenced_works_count":46,"referenced_works":["https://openalex.org/W1508478997","https://openalex.org/W1970413157","https://openalex.org/W2011582941","https://openalex.org/W2017818880","https://openalex.org/W2024405748","https://openalex.org/W2100867326","https://openalex.org/W2101412130","https://openalex.org/W2104549677","https://openalex.org/W2111326065","https://openalex.org/W2112546470","https://openalex.org/W2124865340","https://openalex.org/W2124871329","https://openalex.org/W2145191876","https://openalex.org/W2160995259","https://openalex.org/W2167852161","https://openalex.org/W2195303995","https://openalex.org/W2521967673","https://openalex.org/W2535426958","https://openalex.org/W2561724945","https://openalex.org/W2583025663","https://openalex.org/W2612196455","https://openalex.org/W2751686252","https://openalex.org/W2883972171","https://openalex.org/W2889753913","https://openalex.org/W2891643925","https://openalex.org/W2901527454","https://openalex.org/W2990435446","https://openalex.org/W3023683757","https://openalex.org/W3123287010","https://openalex.org/W3133880257","https://openalex.org/W3199639770","https://openalex.org/W3216782976","https://openalex.org/W4210397295","https://openalex.org/W4303671988","https://openalex.org/W4308616064","https://openalex.org/W4309506674","https://openalex.org/W4309563206","https://openalex.org/W4312176349","https://openalex.org/W4385621922","https://openalex.org/W4385737488","https://openalex.org/W4386861232","https://openalex.org/W4389367121","https://openalex.org/W4396890157","https://openalex.org/W4400103415","https://openalex.org/W6630297610","https://openalex.org/W6633589378"],"related_works":["https://openalex.org/W2899084033","https://openalex.org/W3004443428","https://openalex.org/W2361861616","https://openalex.org/W4361004911","https://openalex.org/W2263699433","https://openalex.org/W2377979023","https://openalex.org/W1971719088","https://openalex.org/W2625862723","https://openalex.org/W2218034408","https://openalex.org/W2392921965"],"abstract_inverted_index":{"HomolVar":[0],"is":[1],"freely":[2],"available":[3],"at":[4],"https://rarevariants.org/HomolVar.":[5]},"counts_by_year":[],"updated_date":"2026-03-27T14:29:43.386196","created_date":"2025-10-10T00:00:00"}
