{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T14:10:54Z","timestamp":1776348654582,"version":"3.51.2"},"reference-count":63,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"National Institutes of Health Office of the Director","award":["OT2 OD038054"],"award-info":[{"award-number":["OT2 OD038054"]}]},{"name":"National Institutes of Health Office of the Director","award":["U54 OD030165"],"award-info":[{"award-number":["U54 OD030165"]}]},{"name":"National Institutes of Health Office of the Director","award":["OT2 OD030547"],"award-info":[{"award-number":["OT2 OD030547"]}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U24 HG009649"],"award-info":[{"award-number":["U24 HG009649"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U24 HG012108"],"award-info":[{"award-number":["U24 HG012108"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["U01 AG072439"],"award-info":[{"award-number":["U01 AG072439"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Motivation<\/jats:title>\n                    <jats:p>Methods for sharing gene regulatory information and knowledge on FAIR principles, particularly in the context of tissue-specific gene regulation, remain poorly defined and implemented, hampering discovery and clinical genetic diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We specified FAIR principles for tissue-specific gene regulatory information and knowledge; implemented them by developing a registry of regulatory elements and aggregating FAIR gene regulatory information from several major sources; developed computational tools that utilize these FAIR resources; and demonstrated their utility by associating gene regulatory variants with major subtypes of congenital heart disease.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>Variant prioritization infrastructure tools are available in genboree node repository at https:\/\/genboree.org\/verdaccio\/#\/. Detailed documentation is available at https:\/\/ldh.clinicalgenome.org\/docs\/ldh\/overview.html#related-services. The code for use case analyses and free access variant data is available on Zenodo with DOI: https:\/\/doi.org\/10.5281\/zenodo.17833070.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btag013","type":"journal-article","created":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T12:35:03Z","timestamp":1768653303000},"source":"Crossref","is-referenced-by-count":1,"title":["Aggregation of gene regulatory information and knowledge on FAIR principles enables discovery of pathogenic gene regulatory variants"],"prefix":"10.1093","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3880-9396","authenticated-orcid":false,"given":"Keyang","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX, 77030,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5460-8981","authenticated-orcid":false,"given":"Haoquan","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX, 77030,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4832-9476","authenticated-orcid":false,"given":"Andrea S","family":"Wilderman","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX, 77030,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9022-1584","authenticated-orcid":false,"given":"Tierra R","family":"Farris","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX, 77030,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8750-9579","authenticated-orcid":false,"given":"Jessie E","family":"Arce","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX, 77030,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8726-5209","authenticated-orcid":false,"given":"David","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX, 77030,","place":["United States"]}]},{"given":"Andrew R","family":"Jackson","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX, 77030,","place":["United States"]}]},{"given":"Yiran","family":"Guo","sequence":"additional","affiliation":[{"name":"Center for Data Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, PA, 19104,","place":["United States"]}]},{"given":"Qi","family":"Li","sequence":"additional","affiliation":[{"name":"Center for Data Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, PA, 19104,","place":["United States"]}]},{"given":"Bosko","family":"Jevtic","sequence":"additional","affiliation":[{"name":"Persida Inc. , Brooklyn, NY, 11219,","place":["United States"]}]},{"given":"Dubravka","family":"Jevtic","sequence":"additional","affiliation":[{"name":"Persida Inc. , Brooklyn, NY, 11219,","place":["United States"]}]},{"given":"Vuk","family":"Milinovic","sequence":"additional","affiliation":[{"name":"Persida Inc. , Brooklyn, NY, 11219,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2455-9525","authenticated-orcid":false,"given":"Yuankun","family":"Zhu","sequence":"additional","affiliation":[{"name":"Center for Data Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, PA, 19104,","place":["United States"]}]},{"given":"Jeremy","family":"Costanza","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Centre Azrieli Research Center, , Montreal, QC, H3T 1C5,","place":["Canada"]}]},{"given":"Eric D","family":"Wenger","sequence":"additional","affiliation":[{"name":"Center for Data Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, PA, 19104,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8126-4451","authenticated-orcid":false,"given":"Christopher","family":"Nemarich","sequence":"additional","affiliation":[{"name":"Center for Data Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, PA, 19104,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4062-542X","authenticated-orcid":false,"given":"Lisa","family":"Anderson","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard , Cambridge, MA, 02142,","place":["United States"]}]},{"given":"Aleksandar","family":"Mihajlovi\u0107","sequence":"additional","affiliation":[{"name":"Persida Inc. , Brooklyn, NY, 11219,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4272-6283","authenticated-orcid":false,"given":"Kristin","family":"Ardlie","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard , Cambridge, MA, 02142,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8056-0934","authenticated-orcid":false,"given":"Shaine A","family":"Morris","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine and Texas Children's Hospital Department of Pediatrics, , Houston, TX, 77030,","place":["United States"]}]},{"given":"Matthew E","family":"Roth","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX, 77030,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3302-4610","authenticated-orcid":false,"given":"Deanne M","family":"Taylor","sequence":"additional","affiliation":[{"name":"Center for Data Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, PA, 19104,","place":["United States"]},{"name":"The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine Department of Biomedical and Health Informatics; Department of Pediatrics, , Philadelphia, PA, 19104,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0436-4189","authenticated-orcid":false,"given":"Adam C","family":"Resnick","sequence":"additional","affiliation":[{"name":"Center for Data Driven Discovery in Biomedicine, Children\u2019s Hospital of Philadelphia , Philadelphia, PA, 19104,","place":["United States"]},{"name":"The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine Department of Biomedical and Health Informatics; Department of Pediatrics, , Philadelphia, PA, 19104,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6320-1318","authenticated-orcid":false,"given":"Lilei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX, 77030,","place":["United States"]}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5482-2825","authenticated-orcid":false,"given":"Aleksandar","family":"Milosavljevic","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX, 77030,","place":["United States"]}]}],"member":"286","published-online":{"date-parts":[[2026,1,20]]},"reference":[{"key":"2026030715560818600_btag013-B1","first-page":"3","article-title":"From data to wisdom","volume":"16","author":"Ackoff","year":"1989","journal-title":"J Appl Syst Anal"},{"key":"2026030715560818600_btag013-B2","first-page":"1","article-title":"Exploring the role of generative AI in constructing knowledge graphs for drug indications with medical context: 15th international conference on semantic web applications and tools for health care and life sciences, SWAT4HCLS 2024","volume":"3890","author":"Alharbi","year":"2024","journal-title":"CEUR Workshop Proc"},{"key":"2026030715560818600_btag013-B3","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1055\/s-0041-1736610","article-title":"The efficacy of whole genome sequencing and RNA-Seq in the diagnosis of whole exome sequencing negative patients with complex neurological phenotypes","volume":"12","author":"Blake","year":"2023","journal-title":"J Pediatr Genet"},{"key":"2026030715560818600_btag013-B4","doi-asserted-by":"crossref","first-page":"194767","DOI":"10.1016\/j.bbagrm.2021.194767","article-title":"AutoFAIR\u2014a portal for automating FAIR assessments for bioinformatics resources","volume":"1865","author":"Bonello","year":"2022","journal-title":"Biochim Biophys Acta Gene Regul Mech"},{"key":"2026030715560818600_btag013-B5","doi-asserted-by":"crossref","first-page":"bbab134","DOI":"10.1093\/bib\/bbab134","article-title":"Knowledge bases and software support for variant interpretation in precision oncology","volume":"22","author":"Borchert","year":"2021","journal-title":"Brief Bioinform"},{"key":"2026030715560818600_btag013-B6","author":"Brush","year":"2016"},{"key":"2026030715560818600_btag013-B7","doi-asserted-by":"crossref","first-page":"giac105","DOI":"10.1093\/gigascience\/giac105","article-title":"Making common fund data more findable: catalyzing a data ecosystem","volume":"11","author":"Charbonneau","year":"2022","journal-title":"Gigascience"},{"key":"2026030715560818600_btag013-B8","author":"Clark","year":"2024"},{"key":"2026030715560818600_btag013-B9","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.cels.2019.09.011","article-title":"FAIRshake: toolkit to evaluate the FAIRness of research digital resources","volume":"9","author":"Clarke","year":"2019","journal-title":"Cell Syst"},{"key":"2026030715560818600_btag013-B10","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1038\/s41586-024-08244-9","article-title":"The human and non-human primate developmental GTEx projects","volume":"637","author":"Coorens","year":"2025","journal-title":"Nature"},{"key":"2026030715560818600_btag013-B11","doi-asserted-by":"crossref","first-page":"R190","DOI":"10.1093\/hmg\/ddw216","article-title":"Identification and function of enhancers in the human genome","volume":"25","author":"Coppola","year":"2016","journal-title":"Hum Mol Genet"},{"key":"2026030715560818600_btag013-B12","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/s13326-016-0088-7","article-title":"The Cell Ontology 2016: enhanced content, modularization, and ontology interoperability","volume":"7","author":"Diehl","year":"2016","journal-title":"J Biomed Semantics"},{"key":"2026030715560818600_btag013-B13","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature11247","article-title":"An integrated encyclopedia of DNA elements in the human genome","volume":"489","author":"Dunham","year":"2012","journal-title":"Nature"},{"key":"2026030715560818600_btag013-B14","doi-asserted-by":"crossref","first-page":"eadi5199","DOI":"10.1126\/science.adi5199","article-title":"Single-cell genomics and regulatory networks for 388 human brains","volume":"384","author":"Emani","year":"2024","journal-title":"Science"},{"key":"2026030715560818600_btag013-B15","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/s41597-019-0180-9","article-title":"FAIR adoption, assessment and challenges at UniProt","volume":"6","author":"Garcia","year":"2019","journal-title":"Sci Data"},{"key":"2026030715560818600_btag013-B16","first-page":"383","article-title":"Development and application of a computable genotype model in the GA4GH variation representation specification","volume":"28","author":"Goar","year":"2023","journal-title":"Pac Symp Biocomput"},{"key":"2026030715560818600_btag013-B17","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1038\/ng.3774","article-title":"CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer","volume":"49","author":"Griffith","year":"2017","journal-title":"Nat Genet"},{"key":"2026030715560818600_btag013-B18","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s13326-021-00239-z","article-title":"SIENA: semi-automatic semantic enhancement of datasets using concept recognition","volume":"12","author":"Grigoriu","year":"2021","journal-title":"J Biomed Semantics"},{"key":"2026030715560818600_btag013-B84760482","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.596840","article-title":"Rare variants in genes associated with cardiomyopathy are not common in hypoplastic left heart syndrome patients with myocardial dysfunction","volume":"8","author":"Helle","year":"2020","journal-title":"Front Pediatr"},{"key":"2026030715560818600_btag013-B19","doi-asserted-by":"crossref","first-page":"1905","DOI":"10.1038\/s41591-024-03056-w","article-title":"Benefits for children with suspected cancer from routine whole-genome sequencing","volume":"30","author":"Hodder","year":"2024","journal-title":"Nat Med"},{"key":"2026030715560818600_btag013-B20","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1111\/j.1399-0004.2011.01674.x","article-title":"Identification of de novo mutations and rare variants in hypoplastic left heart syndrome","volume":"81","author":"Iascone","year":"2012","journal-title":"Clin Genet"},{"key":"2026030715560818600_btag013-B21","doi-asserted-by":"publisher","first-page":"1460351","DOI":"10.3389\/fgene.2024.1460351","article-title":"Building a FAIR data ecosystem for incorporating single-cell transcriptomics data into agricultural genome to phenome research","volume":"15","author":"Kapoor","year":"2024","journal-title":"Front Genet"},{"key":"2026030715560818600_btag013-B22","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1038\/nature14248","article-title":"Integrative analysis of 111 reference human epigenomes","volume":"518","author":"Kundaje","year":"2015","journal-title":"Nature"},{"key":"2026030715560818600_btag013-B23","doi-asserted-by":"crossref","first-page":"D1313","DOI":"10.1093\/nar\/gkae1090","article-title":"ClinVar: updates to support classifications of both germline and somatic variants","volume":"53","author":"Landrum","year":"2025","journal-title":"Nucleic Acids Res"},{"key":"2026030715560818600_btag013-B24","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1016\/j.cell.2013.02.014","article-title":"Transcriptional regulation and its misregulation in disease","volume":"152","author":"Lee","year":"2013","journal-title":"Cell"},{"key":"2026030715560818600_btag013-B25","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.cell.2014.02.009","article-title":"Looping back to leap forward: transcription enters a new era","volume":"157","author":"Levine","year":"2014","journal-title":"Cell"},{"key":"2026030715560818600_btag013-B26","doi-asserted-by":"crossref","first-page":"6683","DOI":"10.1038\/s41598-019-43109-6","article-title":"DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome","volume":"9","author":"Liu","year":"2019","journal-title":"Sci Rep"},{"key":"2026030715560818600_btag013-B27","doi-asserted-by":"crossref","first-page":"D882","DOI":"10.1093\/nar\/gkz1062","article-title":"New developments on the encyclopedia of DNA elements (ENCODE) data portal","volume":"48","author":"Luo","year":"2020","journal-title":"Nucleic Acids Res"},{"key":"2026030715560818600_btag013-B28","author":"Ma","year":"2024"},{"key":"2026030715560818600_btag013-B29","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1038\/nature09796","article-title":"A decade\u2019s perspective on DNA sequencing technology","volume":"470","author":"Mardis","year":"2011","journal-title":"Nature"},{"key":"2026030715560818600_btag013-B30","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1038\/s41586-020-2493-4","article-title":"Expanded encyclopaedias of DNA elements in the human and mouse genomes","volume":"583","author":"Moore","year":"2020","journal-title":"Nature"},{"key":"2026030715560818600_btag013-B31","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1038\/s41569-021-00587-4","article-title":"Genomic frontiers in congenital heart disease","volume":"19","author":"Morton","year":"2022","journal-title":"Nat Rev Cardiol"},{"key":"2026030715560818600_btag013-B32","doi-asserted-by":"crossref","first-page":"R5","DOI":"10.1186\/gb-2012-13-1-r5","article-title":"Uberon, an integrative multi-species anatomy ontology","volume":"13","author":"Mungall","year":"2012","journal-title":"Genome Biol"},{"key":"2026030715560818600_btag013-B33","doi-asserted-by":"crossref","first-page":"D8","DOI":"10.1093\/nar\/gks1189","article-title":"Database resources of the national center for biotechnology information","volume":"41","author":"NCBI Resource Coordinators","year":"2013","journal-title":"Nucleic Acids Res"},{"key":"2026030715560818600_btag013-B34","doi-asserted-by":"publisher","first-page":"eaar3146","DOI":"10.1126\/science.aar3146","article-title":"Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci","volume":"361","author":"Onuchic","year":"2018","journal-title":"Science"},{"key":"2026030715560818600_btag013-B35","doi-asserted-by":"publisher","first-page":"20230032","DOI":"10.1515\/jib-2023-0032","article-title":"BGRS: bioinformatics of genome regulation and data integration","volume":"20","author":"Orlov","year":"2023","journal-title":"J Integr Bioinform"},{"key":"2026030715560818600_btag013-B36","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1038\/s41576-020-00303-x","article-title":"The relationship between genome structure and function","volume":"22","author":"Oudelaar","year":"2021","journal-title":"Nat Rev Genet"},{"key":"2026030715560818600_btag013-B37","doi-asserted-by":"crossref","first-page":"1690","DOI":"10.1002\/humu.23637","article-title":"ClinGen Allele Registry links information about genetic variants","volume":"39","author":"Pawliczek","year":"2018","journal-title":"Hum Mutat"},{"key":"2026030715560818600_btag013-B38","doi-asserted-by":"crossref","first-page":"D1243","DOI":"10.1093\/nar\/gkae974","article-title":"The UCSC Genome Browser database: 2025 update","volume":"53","author":"Perez","year":"2025","journal-title":"Nucleic Acids Res"},{"key":"2026030715560818600_btag013-B39","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.gim.2021.08.009","article-title":"US private payers\u2019 perspectives on insurance coverage for genome sequencing versus exome sequencing: a study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER)","volume":"24","author":"Phillips","year":"2022","journal-title":"Genet Med"},{"key":"2026030715560818600_btag013-B40","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/s41576-022-00509-1","article-title":"Characterizing cis-regulatory elements using single-cell epigenomics","volume":"24","author":"Preissl","year":"2023","journal-title":"Nat Rev Genet"},{"key":"2026030715560818600_btag013-B41","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/s41588-020-0652-z","article-title":"Genomic analyses implicate noncoding de novo variants in congenital heart disease","volume":"52","author":"Richter","year":"2020","journal-title":"Nat Genet"},{"key":"2026030715560818600_btag013-B42","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1038\/550451a","article-title":"The Human Cell Atlas: from vision to reality","volume":"550","author":"Rozenblatt-Rosen","year":"2017","journal-title":"Nature"},{"key":"2026030715560818600_btag013-B43","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1016\/j.cell.2023.02.018","article-title":"The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models","volume":"186","author":"Rozowsky","year":"2023","journal-title":"Cell"},{"key":"2026030715560818600_btag013-B44","doi-asserted-by":"crossref","first-page":"D1003","DOI":"10.1093\/nar\/gkac888","article-title":"Genenames.org: the HGNC resources in 2023","volume":"51","author":"Seal","year":"2023","journal-title":"Nucleic Acids Res"},{"key":"2026030715560818600_btag013-B45","doi-asserted-by":"crossref","first-page":"3255","DOI":"10.1093\/hmg\/dds165","article-title":"Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease","volume":"21","author":"Smemo","year":"2012","journal-title":"Hum Mol Genet"},{"key":"2026030715560818600_btag013-B46","doi-asserted-by":"crossref","first-page":"2210","DOI":"10.21037\/tp-20-164","article-title":"Prenatal diagnosis of congenital heart defects: echocardiography","volume":"10","author":"Sun","year":"2021","journal-title":"Transl Pediatr"},{"key":"2026030715560818600_btag013-B47","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1126\/science.aaz1776","article-title":"The GTEx Consortium atlas of genetic regulatory effects across human tissues","volume":"369","author":"The GTEx Consortium","year":"2020","journal-title":"Science"},{"key":"2026030715560818600_btag013-B93356976","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.120.003126","article-title":"Genetic association between hypoplastic left heart syndrome and cardiomyopathies","volume":"14","author":"Theis","year":"2021","journal-title":"Circ: Genomic and Precision Medicine"},{"key":"2026030715560818600_btag013-B48","first-page":"117","article-title":"Whole genome sequencing in hypoplastic left heart syndrome","volume":"9","author":"Theis","year":"2022","journal-title":"J Cardiovasc Dev Dis"},{"key":"2026030715560818600_btag013-B49","doi-asserted-by":"publisher","first-page":"100032","DOI":"10.1016\/j.xgen.2021.100032","article-title":"International federation of genomic medicine databases using GA4GH standards","volume":"1","author":"Thorogood","year":"2021","journal-title":"Cell Genomics"},{"key":"2026030715560818600_btag013-B50","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1016\/j.jval.2020.01.018","article-title":"Insights from a temporal assessment of increases in US private payer coverage of tumor sequencing from 2015 to 2019","volume":"23","author":"Trosman","year":"2020","journal-title":"Value Health"},{"key":"2026030715560818600_btag013-B51","doi-asserted-by":"crossref","first-page":"e184","DOI":"10.1161\/CIRCRESAHA.120.316704","article-title":"Epigenomic and transcriptomic dynamics during human heart organogenesis","volume":"127","author":"VanOudenhove","year":"2020","journal-title":"Circ Res"},{"key":"2026030715560818600_btag013-B52","doi-asserted-by":"crossref","first-page":"160018","DOI":"10.1038\/sdata.2016.18","article-title":"The FAIR Guiding Principles for scientific data management and stewardship","volume":"3","author":"Wilkinson","year":"2016","journal-title":"Sci Data"},{"key":"2026030715560818600_btag013-B53","doi-asserted-by":"crossref","first-page":"180118","DOI":"10.1038\/sdata.2018.118","article-title":"A design framework and exemplar metrics for FAIRness","volume":"5","author":"Wilkinson","year":"2018","journal-title":"Sci Data"},{"key":"2026030715560818600_btag013-B54","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1186\/s13059-016-0953-9","article-title":"High-performance web services for querying gene and variant annotation","volume":"17","author":"Xin","year":"2016","journal-title":"Genome Biol"},{"key":"2026030715560818600_btag013-B55","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1007\/s00246-018-1861-4","article-title":"The genetic landscape of hypoplastic left heart syndrome","volume":"39","author":"Yagi","year":"2018","journal-title":"Pediatr Cardiol"},{"key":"2026030715560818600_btag013-B56","first-page":"D682","article-title":"Ensembl 2020","volume":"48","author":"Yates","year":"2020","journal-title":"Nucleic Acids Res"},{"key":"2026030715560818600_btag013-B57","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1093\/bioinformatics\/btab524","article-title":"Refget: standardized access to reference sequences","volume":"38","author":"Yates","year":"2021","journal-title":"Bioinformatics"},{"key":"2026030715560818600_btag013-B58","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1161\/CIRCRESAHA.116.309140","article-title":"Genetics and genomics of congenital heart disease","volume":"120","author":"Zaidi","year":"2017","journal-title":"Circ Res"},{"key":"2026030715560818600_btag013-B59","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1007\/978-3-319-58451-5_11","volume-title":"The Semantic Web","author":"Zaveri","year":"2017"},{"key":"2026030715560818600_btag013-B60","doi-asserted-by":"crossref","first-page":"bbaf505","DOI":"10.1093\/bib\/bbaf505","article-title":"Streamline automated biomedical discoveries with agentic bioinformatics","volume":"26","author":"Zhou","year":"2025","journal-title":"Brief Bioinform"},{"key":"2026030715560818600_btag013-B61","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.gpb.2022.08.001","article-title":"CHDbase: a comprehensive knowledgebase for congenital heart disease-related genes and clinical manifestations","volume":"21","author":"Zhou","year":"2023","journal-title":"Genom Proteom Bioinform"}],"container-title":["Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bioinformatics\/advance-article-pdf\/doi\/10.1093\/bioinformatics\/btag013\/66483561\/btag013.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/42\/3\/btag013\/66483561\/btag013.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article-pdf\/42\/3\/btag013\/66483561\/btag013.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T20:56:17Z","timestamp":1772916977000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bioinformatics\/article\/doi\/10.1093\/bioinformatics\/btag013\/8431711"}},"subtitle":[],"editor":[{"given":"Jonathan","family":"Wren","sequence":"additional","affiliation":[]}],"short-title":[],"issued":{"date-parts":[[2026,1,20]]},"references-count":63,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,2,28]]}},"URL":"https:\/\/doi.org\/10.1093\/bioinformatics\/btag013","relation":{},"ISSN":["1367-4811"],"issn-type":[{"value":"1367-4811","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,3]]},"published":{"date-parts":[[2026,1,20]]},"article-number":"btag013"}}