{"id":"https://openalex.org/W7204236759","doi":"https://doi.org/10.1016/j.jacadv.2026.103123","title":"Prevalence of Pathogenic Genetic Variants Across Heart Failure Etiologies in an Admixed Population","display_name":"Prevalence of Pathogenic Genetic Variants Across Heart Failure Etiologies in an Admixed Population","publication_year":2026,"publication_date":"2026-08-26","ids":{"openalex":"https://openalex.org/W7204236759","doi":"https://doi.org/10.1016/j.jacadv.2026.103123","pmid":"https://pubmed.ncbi.nlm.nih.gov/42658137","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13699707"},"language":"en","primary_location":{"id":"doi:10.1016/j.jacadv.2026.103123","doi":"https://doi.org/10.1016/j.jacadv.2026.103123","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jacadv.2026.103123","pdf_url":null,"source":{"id":"https://openalex.org/S4220651314","display_name":"JACC Advances","issn_l":"2772-963X","issn":["2772-963X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","doyens","jufo-1","ki-jl-1","norway-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JACC: Advances","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1016/j.jacadv.2026.103123","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5055841669","display_name":"Isabella Ramos Lima","orcid":"https://orcid.org/0000-0002-0606-9370","observed_orcids":["https://orcid.org/0000-0002-0606-9370"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]},{"id":"https://openalex.org/I4405258467","display_name":"Instituto do Cora\u00e7\u00e3o - HCFMUSP","ror":"https://ror.org/00q3jak84","country_code":"BR","type":"facility","lineage":["https://openalex.org/I4210145268","https://openalex.org/I4405258467"]}],"countries":["BR"],"is_corresponding":true,"raw_author_name":"Isabella Ramos Lima","raw_affiliation_strings":["Laboratorio de Genetica e Cardiologia Molecular, Instituto do Cora\u00e7\u00e3o (InCor), Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil. Electronic address: isabellalima.bmd@gmail.com"],"raw_orcid":"https://orcid.org/0000-0002-0606-9370","affiliations":[{"raw_affiliation_string":"Laboratorio de Genetica e Cardiologia Molecular, Instituto do Cora\u00e7\u00e3o (InCor), Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil. Electronic address: isabellalima.bmd@gmail.com","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I4405258467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034782152","display_name":"Lucas Vieira Lacerda Pires","orcid":"https://orcid.org/0000-0001-8649-976X","observed_orcids":["https://orcid.org/0000-0001-8649-976X"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]},{"id":"https://openalex.org/I4405258467","display_name":"Instituto do Cora\u00e7\u00e3o - HCFMUSP","ror":"https://ror.org/00q3jak84","country_code":"BR","type":"facility","lineage":["https://openalex.org/I4210145268","https://openalex.org/I4405258467"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Lucas Vieira Lacerda Pires","raw_affiliation_strings":["Laboratorio de Genetica e Cardiologia Molecular, Instituto do Cora\u00e7\u00e3o (InCor), Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Genetica e Cardiologia Molecular, Instituto do Cora\u00e7\u00e3o (InCor), Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I4405258467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071959609","display_name":"Marcos Ara\u00fajo Castro e Silva","orcid":"https://orcid.org/0000-0002-9873-3717","observed_orcids":["https://orcid.org/0000-0002-9873-3717"]},"institutions":[{"id":"https://openalex.org/I170486558","display_name":"Universitat Pompeu Fabra","ror":"https://ror.org/04n0g0b29","country_code":"ES","type":"education","lineage":["https://openalex.org/I170486558"]},{"id":"https://openalex.org/I4210135169","display_name":"Institut de Biologia Evolutiva","ror":"https://ror.org/044mj7r89","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I170486558","https://openalex.org/I4210135169"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Marcos Ara\u00fajo Castro e Silva","raw_affiliation_strings":["Institut de Biologia Evolutiva, Departament de Medicina i Ci\u00e8ncies de la Vida, Universitat Pompeu Fabra, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de Biologia Evolutiva, Departament de Medicina i Ci\u00e8ncies de la Vida, Universitat Pompeu Fabra, Barcelona, Spain","institution_ids":["https://openalex.org/I170486558","https://openalex.org/I4210135169"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5138184705","display_name":"Alfredo J. Mansur","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]},{"id":"https://openalex.org/I4405258467","display_name":"Instituto do Cora\u00e7\u00e3o - HCFMUSP","ror":"https://ror.org/00q3jak84","country_code":"BR","type":"facility","lineage":["https://openalex.org/I4210145268","https://openalex.org/I4405258467"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Alfredo J. Mansur","raw_affiliation_strings":["Laboratorio de Genetica e Cardiologia Molecular, Instituto do Cora\u00e7\u00e3o (InCor), Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Genetica e Cardiologia Molecular, Instituto do Cora\u00e7\u00e3o (InCor), Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I4405258467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5148353020","display_name":"Lygia V. Pereira","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]}],"countries":["BR"],"is_corresponding":false,"raw_author_name":"Lygia V. Pereira","raw_affiliation_strings":["Departamento de Gen\u00e9tica e Biologia Evolutiva, Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Gen\u00e9tica e Biologia Evolutiva, Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047078365","display_name":"T\u00e1bita H\u00fcnemeier","orcid":"https://orcid.org/0000-0002-3156-2079","observed_orcids":["https://orcid.org/0000-0002-3156-2079"]},"institutions":[{"id":"https://openalex.org/I170486558","display_name":"Universitat Pompeu Fabra","ror":"https://ror.org/04n0g0b29","country_code":"ES","type":"education","lineage":["https://openalex.org/I170486558"]},{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]},{"id":"https://openalex.org/I4210135169","display_name":"Institut de Biologia Evolutiva","ror":"https://ror.org/044mj7r89","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I170486558","https://openalex.org/I4210135169"]}],"countries":["BR","ES"],"is_corresponding":false,"raw_author_name":"T\u00e1bita H\u00fcnemeier","raw_affiliation_strings":["Institut de Biologia Evolutiva, Departament de Medicina i Ci\u00e8ncies de la Vida, Universitat Pompeu Fabra, Barcelona, Spain; Departamento de Gen\u00e9tica e Biologia Evolutiva, Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de Biologia Evolutiva, Departament de Medicina i Ci\u00e8ncies de la Vida, Universitat Pompeu Fabra, Barcelona, Spain; Departamento de Gen\u00e9tica e Biologia Evolutiva, Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I170486558","https://openalex.org/I17974374","https://openalex.org/I4210135169"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088604083","display_name":"Jos\u00e9 Eduardo Krieger","orcid":"https://orcid.org/0000-0001-5464-1792","observed_orcids":["https://orcid.org/0000-0001-5464-1792"]},"institutions":[{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]},{"id":"https://openalex.org/I4405258467","display_name":"Instituto do Cora\u00e7\u00e3o - HCFMUSP","ror":"https://ror.org/00q3jak84","country_code":"BR","type":"facility","lineage":["https://openalex.org/I4210145268","https://openalex.org/I4405258467"]}],"countries":["BR"],"is_corresponding":true,"raw_author_name":"Jos\u00e9 Eduardo Krieger","raw_affiliation_strings":["Laboratorio de Genetica e Cardiologia Molecular, Instituto do Cora\u00e7\u00e3o (InCor), Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratorio de Genetica e Cardiologia Molecular, Instituto do Cora\u00e7\u00e3o (InCor), Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil","institution_ids":["https://openalex.org/I17974374","https://openalex.org/I4405258467"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5032544285","display_name":"Alexandre C. Pereira","orcid":"https://orcid.org/0000-0002-7782-5540","observed_orcids":["https://orcid.org/0000-0002-7782-5540"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I17974374","display_name":"Universidade de S\u00e3o Paulo","ror":"https://ror.org/036rp1748","country_code":"BR","type":"education","lineage":["https://openalex.org/I17974374"]},{"id":"https://openalex.org/I4405258467","display_name":"Instituto do Cora\u00e7\u00e3o - HCFMUSP","ror":"https://ror.org/00q3jak84","country_code":"BR","type":"facility","lineage":["https://openalex.org/I4210145268","https://openalex.org/I4405258467"]}],"countries":["BR","US"],"is_corresponding":true,"raw_author_name":"Alexandre C. Pereira","raw_affiliation_strings":["Laboratorio de Genetica e Cardiologia Molecular, Instituto do Cora\u00e7\u00e3o (InCor), Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil; Aging Division, Brigham and Women's Hospital, Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA"],"raw_orcid":"https://orcid.org/0000-0002-7782-5540","affiliations":[{"raw_affiliation_string":"Laboratorio de Genetica e Cardiologia Molecular, Instituto do Cora\u00e7\u00e3o (InCor), Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brazil; Aging Division, Brigham and Women's Hospital, Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I17974374","https://openalex.org/I4405258467"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5032544285","https://openalex.org/A5055841669","https://openalex.org/A5088604083"],"corresponding_institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I17974374","https://openalex.org/I4405258467"],"apc_list":{"value":2936,"currency":"USD","value_usd":2936},"apc_paid":{"value":2936,"currency":"USD","value_usd":2936},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.61717509,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"5","issue":"10","first_page":"103123","last_page":"103123"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.8452000021934509,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.8452000021934509,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.11490000039339066,"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/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.009200000204145908,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/heart-failure","display_name":"heart failure","score":0.9419999718666077},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.8899999856948853},{"id":"https://openalex.org/keywords/admixed-populations","display_name":"admixed populations","score":0.6179999709129333},{"id":"https://openalex.org/keywords/reduced-ejection-fraction","display_name":"reduced ejection fraction","score":0.7549999952316284},{"id":"https://openalex.org/keywords/mildly-reduced-ejection-fraction","display_name":"mildly reduced ejection fraction","score":0.9549999833106995},{"id":"https://openalex.org/keywords/idiopathic-dilated-cardiomyopathy","display_name":"idiopathic dilated cardiomyopathy","score":0.8939999938011169},{"id":"https://openalex.org/keywords/ttn-variants","display_name":"TTN variants","score":0.871999979019165},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.7739999890327454},{"id":"https://openalex.org/keywords/local-ancestry","display_name":"local ancestry","score":0.8709999918937683},{"id":"https://openalex.org/keywords/african-ancestry","display_name":"African ancestry","score":0.7860000133514404},{"id":"https://openalex.org/keywords/native-american-ancestry","display_name":"Native American ancestry","score":0.9819999933242798},{"id":"https://openalex.org/keywords/genetic-testing-yield","display_name":"genetic testing yield","score":0.5669999718666077},{"id":"https://openalex.org/keywords/cardiovascular-genomics","display_name":"cardiovascular genomics","score":0.7310000061988831},{"id":"https://openalex.org/keywords/ischemic-heart-failure","display_name":"ischemic heart failure","score":0.781000018119812},{"id":"https://openalex.org/keywords/chagas-cardiomyopathy","display_name":"Chagas cardiomyopathy","score":0.6980000138282776},{"id":"https://openalex.org/keywords/hypertensive-heart-failure","display_name":"hypertensive heart failure","score":0.9819999933242798}],"concepts":[{"id":"https://openalex.org/C137627325","wikidata":"https://www.wikidata.org/wiki/Q156318","display_name":"Etiology","level":2,"score":0.6028000116348267},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.5957000255584717},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5896999835968018},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5063999891281128},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4837000072002411},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.4221999943256378},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.4108000099658966},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.3434000015258789},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3422999978065491},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.33649998903274536},{"id":"https://openalex.org/C107130276","wikidata":"https://www.wikidata.org/wiki/Q133805","display_name":"Epidemiology","level":2,"score":0.33399999141693115},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.3098999857902527},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.30140000581741333},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.29420000314712524},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.2930000126361847},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.28870001435279846},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.2808000147342682},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.27880001068115234},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.2718999981880188},{"id":"https://openalex.org/C2780074459","wikidata":"https://www.wikidata.org/wiki/Q389735","display_name":"Heart disease","level":2,"score":0.26989999413490295},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.26809999346733093},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.2612000107765198},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.26109999418258667}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1016/j.jacadv.2026.103123","doi":"https://doi.org/10.1016/j.jacadv.2026.103123","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jacadv.2026.103123","pdf_url":null,"source":{"id":"https://openalex.org/S4220651314","display_name":"JACC Advances","issn_l":"2772-963X","issn":["2772-963X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","doyens","jufo-1","ki-jl-1","norway-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JACC: Advances","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13699707","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13699707/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13699707/pdf/main.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"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-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JACC Adv","raw_type":"Text"},{"id":"pmid:42658137","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42658137","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,"listed_in":[],"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":"JACC. Advances","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:70478ba44caf4c49b10131ce061713db","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/70478ba44caf4c49b10131ce061713db","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"JACC: Advances, Vol 5, Iss 10, Pp 103123- (2026)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1016/j.jacadv.2026.103123","doi":"https://doi.org/10.1016/j.jacadv.2026.103123","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.jacadv.2026.103123","pdf_url":null,"source":{"id":"https://openalex.org/S4220651314","display_name":"JACC Advances","issn_l":"2772-963X","issn":["2772-963X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","doyens","jufo-1","ki-jl-1","norway-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"JACC: Advances","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320320997","display_name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","ror":"https://ror.org/02ddkpn78"},{"id":"https://openalex.org/F4320321091","display_name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","ror":"https://ror.org/00x0ma614"},{"id":"https://openalex.org/F4320323916","display_name":"Minist\u00e9rio da Sa\u00fade","ror":"https://ror.org/02y7p0749"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7204236759.pdf","grobid_xml":"https://content.openalex.org/works/W7204236759.grobid-xml"},"referenced_works_count":42,"referenced_works":["https://openalex.org/W1540912658","https://openalex.org/W2051978340","https://openalex.org/W2053755118","https://openalex.org/W2090027397","https://openalex.org/W2091831926","https://openalex.org/W2102213696","https://openalex.org/W2155102198","https://openalex.org/W2162634302","https://openalex.org/W2167989424","https://openalex.org/W2293996523","https://openalex.org/W2417483443","https://openalex.org/W2461009071","https://openalex.org/W2468038249","https://openalex.org/W2521967673","https://openalex.org/W2556701428","https://openalex.org/W2769205163","https://openalex.org/W2791970545","https://openalex.org/W2811346500","https://openalex.org/W2890405230","https://openalex.org/W2911299823","https://openalex.org/W2987246135","https://openalex.org/W3003054269","https://openalex.org/W3012977371","https://openalex.org/W3111642049","https://openalex.org/W3135401668","https://openalex.org/W3158927534","https://openalex.org/W3185808000","https://openalex.org/W3203111501","https://openalex.org/W4214845227","https://openalex.org/W4220668577","https://openalex.org/W4292513112","https://openalex.org/W4309151439","https://openalex.org/W4309643822","https://openalex.org/W4382631675","https://openalex.org/W4384924290","https://openalex.org/W4387931371","https://openalex.org/W4399282110","https://openalex.org/W4399428546","https://openalex.org/W4402995702","https://openalex.org/W4407184128","https://openalex.org/W4407624681","https://openalex.org/W4410456248"],"related_works":["https://openalex.org/W3111642049","https://openalex.org/W4376641802","https://openalex.org/W7123362595","https://openalex.org/W4379599187","https://openalex.org/W7138934411","https://openalex.org/W4403682076","https://openalex.org/W4407184128","https://openalex.org/W7113288154","https://openalex.org/W2979563966","https://openalex.org/W2766711613"],"abstract_inverted_index":{"BACKGROUND:":[0],"Heart":[1,73],"failure":[2],"(HF)":[3],"has":[4],"multiple":[5],"etiologies,":[6],"but":[7,188,241],"genetic":[8,26,234,246],"testing":[9,235,247],"remains":[10],"mainly":[11],"recommended":[12],"for":[13,159],"selected":[14,250],"subgroups":[15],"with":[16,34,102,125,131,170,218,238],"suspected":[17],"inherited":[18],"cardiomyopathy.":[19],"OBJECTIVES:":[20],"This":[21],"study":[22],"identified":[23],"and":[24,65,93,129,148,178,200,220,261,271],"classified":[25,85],"variants":[27,78,154,157,173,190],"in":[28,46,61,72,79,174,194,216,236,264,274],"patients":[29],"within":[30],"a":[31,228],"HF":[32,123,130,198,251],"cohort":[33,124],"reduced":[35,40,126,133],"ejection":[36,41,127,134],"fraction":[37,42,128],"or":[38],"mildly":[39,132],"from":[43,57],"diverse":[44],"etiologies":[45],"an":[47],"admixed":[48,262],"population.":[49],"METHODS:":[50],"The":[51],"authors":[52],"analyzed":[53],"whole-genome":[54],"sequencing":[55],"data":[56],"1,013":[58],"unrelated":[59],"individuals":[60,109,237],"the":[62,163,184,243,256],"GENIUS-HF":[63],"(Genetic":[64],"ElectroNic":[66],"medIcal":[67],"records":[68],"to":[69,87,267],"predict":[70],"oUtcomeS":[71],"Failure":[74],"patients)":[75],"cohort.":[76],"Rare":[77],"123":[80],"ClinGen-curated":[81],"cardiovascular":[82,265],"genes":[83],"were":[84,191,212],"according":[86],"American":[88,222],"College":[89],"of":[90,108,145,162,209,232,245,258],"Medical":[91],"Genetics":[92],"Genomics":[94],"(ACMG)":[95],"criteria.":[96],"Local":[97,203],"ancestry":[98,204],"inference":[99],"evaluated":[100],"associations":[101],"variant":[103,116,144,208],"distribution.":[104],"RESULTS:":[105],"Overall,":[106],"6.5%":[107],"carried":[110],"at":[111,141],"least":[112,142],"one":[113],"pathogenic/likely":[114],"pathogenic":[115,189],"considered":[117],"causal":[118,164,172],"(no":[119],"significant":[120,229],"difference":[121],"between":[122],"fraction,":[135],"P":[136],"=":[137],"0.500),":[138],"77.7%":[139],"had":[140,150],"1":[143],"uncertain":[146,210],"significance,":[147],"15.8%":[149],"only":[151],"benign/likely":[152],"benign":[153],"observed.":[155],"TTN":[156],"accounted":[158],"nearly":[160],"half":[161],"findings,":[165],"including":[166,259],"13":[167],"novel":[168],"variants,":[169],"additional":[171],"MYBPC3,":[175],"FLNC,":[176],"BAG3,":[177],"DSP.":[179],"Idiopathic":[180],"dilated":[181,239],"cardiomyopathy":[182,240],"showed":[183,206],"highest":[185],"yield":[186,231],"(9.9%),":[187],"also":[192,254],"detected":[193],"ischemic":[195],"(4.6%),":[196],"Chagasic":[197],"(4.9%),":[199],"hypertensive":[201],"(3.8%).":[202],"analyses":[205],"that":[207],"significance":[211],"significantly":[213],"more":[214],"frequent":[215],"regions":[217],"African":[219],"Native":[221],"ancestry.":[223],"CONCLUSIONS:":[224],"These":[225],"findings":[226],"replicate":[227],"diagnostic":[230],"molecular":[233],"extend":[242],"relevance":[244],"beyond":[248],"traditionally":[249],"subgroups.":[252],"They":[253],"underscore":[255],"importance":[257],"non-European":[260],"populations":[263],"genomics":[266],"reduce":[268],"interpretation":[269],"bias":[270],"improve":[272],"equity":[273],"precision":[275],"medicine.":[276]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-08-27T00:00:00"}
