{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T01:21:05Z","timestamp":1793928065386,"version":"4.8.0"},"reference-count":57,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T00:00:00Z","timestamp":1733184000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T00:00:00Z","timestamp":1733184000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genome Med"],"DOI":"10.1186\/s13073-024-01392-7","type":"journal-article","created":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T07:37:02Z","timestamp":1733211422000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Using multiplexed functional data to reduce variant classification inequities in underrepresented populations"],"prefix":"10.1186","volume":"16","author":[{"given":"Moez","family":"Dawood","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shawn","family":"Fayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sriram","family":"Pendyala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mason","family":"Post","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Divya","family":"Kalra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karynne","family":"Patterson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Venner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara A.","family":"Muffley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas M.","family":"Fowler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan F.","family":"Rubin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer E.","family":"Posey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon E.","family":"Plon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Gibbs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea M.","family":"Starita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla Daniela","family":"Robles-Espinoza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willow","family":"Coyote-Maestas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1613-8998","authenticated-orcid":false,"given":"Irene","family":"Gallego Romero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,3]]},"reference":[{"key":"1392_CR1","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1056\/NEJMc2213457","volume":"388","author":"DA Mata","year":"2023","unstructured":"Mata DA, Rotenstein LS, Ramos MA, Jena AB. Disparities according to genetic ancestry in the use of precision oncology assays. N Engl J Med. 2023;388:281\u20133.","journal-title":"N Engl J Med"},{"key":"1392_CR2","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1038\/s41591-021-01672-4","volume":"28","author":"S Fatumo","year":"2022","unstructured":"Fatumo S, et al. A roadmap to increase diversity in genomic studies. Nat Med. 2022;28:243\u201350.","journal-title":"Nat Med"},{"key":"1392_CR3","doi-asserted-by":"publisher","first-page":"474","DOI":"10.1056\/NEJMms2029562","volume":"384","author":"LN Borrell","year":"2021","unstructured":"Borrell LN, et al. Race and genetic ancestry in medicine \u2014 a time for reckoning with racism. N Engl J Med. 2021;384:474\u201380.","journal-title":"N Engl J Med"},{"key":"1392_CR4","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1038\/s41588-019-0379-x","volume":"51","author":"AR Martin","year":"2019","unstructured":"Martin AR, et al. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat Genet. 2019;51:584\u201391.","journal-title":"Nat Genet"},{"key":"1392_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1056\/NEJMp2030694","volume":"384","author":"FS Collins","year":"2021","unstructured":"Collins FS, Doudna JA, Lander ES, Rotimi CN. Human molecular genetics and genomics \u2014 important advances and exciting possibilities. N Engl J Med. 2021;384:1\u20134.","journal-title":"N Engl J Med"},{"key":"1392_CR6","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100812","volume":"25","author":"DR Matalon","year":"2023","unstructured":"Matalon DR, et al. Clinical, technical, and environmental biases influencing equitable access to clinical genetics\/genomics testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25: 100812.","journal-title":"Genet Med"},{"key":"1392_CR7","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1056\/NEJMsa1507092","volume":"375","author":"AK Manrai","year":"2016","unstructured":"Manrai AK, et al. Genetic misdiagnoses and the potential for health disparities. N Engl J Med. 2016;375:655\u201365.","journal-title":"N Engl J Med"},{"key":"1392_CR8","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.101055","volume":"26","author":"S Cook","year":"2023","unstructured":"Cook S, et al. Molecular testing in newborn screening: VUS burden among true positives and secondary reproductive limitations via expanded carrier screening panels. Genet Med. 2023;26: 101055.","journal-title":"Genet Med"},{"key":"1392_CR9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s42003-023-05690-5","volume":"7","author":"E Venner","year":"2024","unstructured":"Venner E, et al. The frequency of pathogenic variation in the all of us cohort reveals ancestry-driven disparities. Commun Biol. 2024;7:1\u201311.","journal-title":"Commun Biol"},{"key":"1392_CR10","doi-asserted-by":"publisher","first-page":"1559","DOI":"10.1056\/NEJMoa2209046","volume":"388","author":"CF Wright","year":"2023","unstructured":"Wright CF, et al. Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland. N Engl J Med. 2023;388:1559\u201371.","journal-title":"N Engl J Med"},{"key":"1392_CR11","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100880","volume":"25","author":"NS Abul-Husn","year":"2023","unstructured":"Abul-Husn NS, et al. Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients. Genet Med. 2023;25: 100880.","journal-title":"Genet Med"},{"key":"1392_CR12","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2023.39571","volume":"6","author":"E Chen","year":"2023","unstructured":"Chen E, et al. Rates and classification of variants of uncertain significance in hereditary disease genetic testing. JAMA Netw Open. 2023;6: e2339571.","journal-title":"JAMA Netw Open"},{"key":"1392_CR13","doi-asserted-by":"publisher","unstructured":"Giri, V. N., Hartman, R., Pritzlaff, M., Horton, C., Keith, S. W. Germline variant spectrum among African American men undergoing prostate cancer germline testing: need for equity in genetic testing. JCO Precis Oncol 2022:e2200234.https:\/\/doi.org\/10.1200\/PO.22.00234","DOI":"10.1200\/PO.22.00234"},{"key":"1392_CR14","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1038\/gim.2017.96","volume":"20","author":"JL Caswell-Jin","year":"2018","unstructured":"Caswell-Jin JL, et al. Racial\/ethnic differences in multiple-gene sequencing results for hereditary cancer risk. Genet Med. 2018;20:234\u20139.","journal-title":"Genet Med"},{"key":"1392_CR15","doi-asserted-by":"publisher","first-page":"1465","DOI":"10.1002\/cam4.4541","volume":"11","author":"S Tatineni","year":"2022","unstructured":"Tatineni S, et al. Racial and ethnic variation in multigene panel testing in a cohort of BRCA1\/2-negative individuals who had genetic testing in a large urban comprehensive cancer center. Cancer Med. 2022;11:1465\u201373.","journal-title":"Cancer Med"},{"key":"1392_CR16","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100947","volume":"25","author":"HL Rehm","year":"2023","unstructured":"Rehm HL, et al. The landscape of reported VUS in multi-gene panel and genomic testing: time for a change. Genet Med. 2023;25: 100947.","journal-title":"Genet Med"},{"key":"1392_CR17","doi-asserted-by":"publisher","DOI":"10.1001\/jamaoncol.2023.5586","author":"C Horton","year":"2023","unstructured":"Horton C, et al. Diagnostic outcomes of concurrent DNA and RNA sequencing in individuals undergoing hereditary cancer testing. JAMA Oncol. 2023. https:\/\/doi.org\/10.1001\/jamaoncol.2023.5586.","journal-title":"JAMA Oncol"},{"key":"1392_CR18","doi-asserted-by":"publisher","first-page":"2248","DOI":"10.1016\/j.ajhg.2021.11.001","volume":"108","author":"S Fayer","year":"2021","unstructured":"Fayer S, et al. Closing the gap: systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN. Am J Hum Genet. 2021;108:2248\u201358.","journal-title":"Am J Hum Genet"},{"key":"1392_CR19","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1186\/s13059-023-02986-x","volume":"24","author":"DM Fowler","year":"2023","unstructured":"Fowler DM, et al. An Atlas of Variant Effects to understand the genome at nucleotide resolution. Genome Biol. 2023;24:147.","journal-title":"Genome Biol"},{"key":"1392_CR20","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1038\/nmeth.1492","volume":"7","author":"DM Fowler","year":"2010","unstructured":"Fowler DM, et al. High-resolution mapping of protein sequence-function relationships. Nat Methods. 2010;7:741\u20136.","journal-title":"Nat Methods"},{"key":"1392_CR21","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1186\/s13059-023-02880-6","volume":"24","author":"CB Macdonald","year":"2023","unstructured":"Macdonald CB, et al. DIMPLE: deep insertion, deletion, and missense mutation libraries for exploring protein variation in evolution, disease, and biology. Genome Biol. 2023;24:36.","journal-title":"Genome Biol"},{"key":"1392_CR22","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1186\/s13059-022-02839-z","volume":"23","author":"A Scott","year":"2022","unstructured":"Scott A, et al. Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome. Genome Biol. 2022;23:266.","journal-title":"Genome Biol"},{"key":"1392_CR23","doi-asserted-by":"publisher","first-page":"7702","DOI":"10.1038\/s41467-023-43041-4","volume":"14","author":"EJ Radford","year":"2023","unstructured":"Radford EJ, et al. Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation. Nat Commun. 2023;14:7702.","journal-title":"Nat Commun"},{"key":"1392_CR24","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1038\/s41586-018-0461-z","volume":"562","author":"GM Findlay","year":"2018","unstructured":"Findlay GM, et al. Accurate classification of BRCA1 variants with saturation genome editing. Nature. 2018;562:217\u201322.","journal-title":"Nature"},{"key":"1392_CR25","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581:434\u201343.","journal-title":"Nature"},{"key":"1392_CR26","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1038\/s41586-023-06045-0","volume":"625","author":"S Chen","year":"2024","unstructured":"Chen S, et al. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024;625:92\u2013100.","journal-title":"Nature"},{"key":"1392_CR27","unstructured":"SNV\/indel variants | All of Us Public Data Browser. https:\/\/databrowser.researchallofus.org\/variants."},{"key":"1392_CR28","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1002\/humu.24309","volume":"43","author":"S Gudmundsson","year":"2022","unstructured":"Gudmundsson S, et al. Variant interpretation using population databases: lessons from gnomAD. Hum Mutat. 2022;43:1012\u201330.","journal-title":"Hum Mutat"},{"key":"1392_CR29","doi-asserted-by":"publisher","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","volume":"46","author":"MJ Landrum","year":"2018","unstructured":"Landrum MJ, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018;46:D1062\u20137.","journal-title":"Nucleic Acids Res"},{"key":"1392_CR30","unstructured":"ClinVar. https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/."},{"key":"1392_CR31","unstructured":"Coop, G. Genetic similarity versus genetic ancestry groups as sample descriptors in human genetics. Preprint at http:\/\/arxiv.org\/abs\/2207.11595 (2023)."},{"key":"1392_CR32","unstructured":"The GenCC Home Page. https:\/\/thegencc.org\/."},{"key":"1392_CR33","doi-asserted-by":"publisher","first-page":"3382","DOI":"10.1093\/bioinformatics\/btab215","volume":"37","author":"D Kuang","year":"2021","unstructured":"Kuang D, et al. MaveRegistry: a collaboration platform for multiplexed assays of variant effect. Bioinformatics. 2021;37:3382\u20133.","journal-title":"Bioinformatics"},{"key":"1392_CR34","doi-asserted-by":"publisher","first-page":"1114","DOI":"10.1002\/humu.24317","volume":"43","author":"SM Harrison","year":"2022","unstructured":"Harrison SM, et al. Harmonizing variant classification for return of results in the All of Us Research Program. Hum Mutat. 2022;43:1114\u201321.","journal-title":"Hum Mutat"},{"key":"1392_CR35","unstructured":"Representation of classifications in ClinVar. https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/docs\/clinsig\/."},{"key":"1392_CR36","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1177\/2515245919847202","volume":"2","author":"DJ Ozer","year":"2019","unstructured":"Funder DC, Ozer DJ. Evaluating effect size in psychological research: sense and nonsense. Adv Methods Pract Psycholog Sci. 2019;2:156\u201368.","journal-title":"Adv Methods Pract Psycholog Sci"},{"key":"1392_CR37","doi-asserted-by":"publisher","first-page":"1381","DOI":"10.1038\/s41588-018-0204-y","volume":"50","author":"AO Giacomelli","year":"2018","unstructured":"Giacomelli AO, et al. Mutational processes shape the landscape of TP53 mutations in human cancer. Nat Genet. 2018;50:1381\u20137.","journal-title":"Nat Genet"},{"key":"1392_CR38","doi-asserted-by":"publisher","first-page":"874","DOI":"10.1038\/s41588-018-0122-z","volume":"50","author":"KA Matreyek","year":"2018","unstructured":"Matreyek KA, et al. Multiplex assessment of protein variant abundance by massively parallel sequencing. Nat Genet. 2018;50:874\u201382.","journal-title":"Nat Genet"},{"key":"1392_CR39","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1016\/j.ajhg.2018.03.018","volume":"102","author":"TL Mighell","year":"2018","unstructured":"Mighell TL, Evans-Dutson S, O\u2019Roak BJ. A saturation mutagenesis approach to understanding PTEN lipid phosphatase activity and genotype-phenotype relationships. American J Human Genet. 2018;102:943\u201355.","journal-title":"American J Human Genet"},{"key":"1392_CR40","doi-asserted-by":"publisher","unstructured":"Parsons, M. T. et al. Evidence-based recommendations for gene-specific ACMG\/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel. 2024.01.22.24301588 Preprint at 2024. https:\/\/doi.org\/10.1101\/2024.01.22.24301588.","DOI":"10.1101\/2024.01.22.24301588"},{"key":"1392_CR41","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1002\/humu.24152","volume":"42","author":"C Fortuno","year":"2021","unstructured":"Fortuno C, et al. Specifications of the ACMG\/AMP variant interpretation guidelines for germline TP53 variants. Hum Mutat. 2021;42:223\u201336.","journal-title":"Hum Mutat"},{"key":"1392_CR42","doi-asserted-by":"publisher","first-page":"1581","DOI":"10.1002\/humu.23636","volume":"39","author":"JL Mester","year":"2018","unstructured":"Mester JL, et al. Gene-specific criteria for PTEN variant curation: recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018;39:1581\u201392.","journal-title":"Hum Mutat"},{"key":"1392_CR43","doi-asserted-by":"publisher","first-page":"2235","DOI":"10.1056\/NEJMsr1406261","volume":"372","author":"HL Rehm","year":"2015","unstructured":"Rehm HL, et al. ClinGen \u2014 the clinical genome resource. N Engl J Med. 2015;372:2235\u201342.","journal-title":"N Engl J Med"},{"key":"1392_CR44","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1186\/s13073-019-0690-2","volume":"12","author":"SE Brnich","year":"2019","unstructured":"Brnich SE, et al. Recommendations for application of the functional evidence PS3\/BS3 criterion using the ACMG\/AMP sequence variant interpretation framework. Genome Med. 2019;12:3.","journal-title":"Genome Med"},{"key":"1392_CR45","doi-asserted-by":"publisher","unstructured":"Dawood, M. MoezDawood\/ReducingVariantClassificationInequities: v2. Zenodo. 2024. https:\/\/doi.org\/10.5281\/ZENODO.13777870.","DOI":"10.5281\/ZENODO.13777870"},{"key":"1392_CR46","doi-asserted-by":"publisher","first-page":"1059","DOI":"10.1093\/jnci\/djy027","volume":"110","author":"TP Slavin","year":"2018","unstructured":"Slavin TP, et al. Prospective study of cancer genetic variants: variation in rate of reclassification by ancestry. JNCI. 2018;110:1059\u201366.","journal-title":"JNCI"},{"key":"1392_CR47","doi-asserted-by":"publisher","unstructured":"Committee on the Use of Race, Ethnicity, and Ancestry as Population Descriptors in Genomics Research et al. Using population descriptors in genetics and genomics research: a new framework for an evolving field. 26902 (National Academies Press, Washington, D.C., 2023). https:\/\/doi.org\/10.17226\/26902.","DOI":"10.17226\/26902"},{"key":"1392_CR48","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","volume":"99","author":"NM Ioannidis","year":"2016","unstructured":"Ioannidis NM, et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99:877\u201385.","journal-title":"Am J Hum Genet"},{"key":"1392_CR49","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1002\/humu.23158","volume":"38","author":"B-J Feng","year":"2017","unstructured":"Feng B-J. PERCH: a unified framework for disease gene prioritization. Hum Mutat. 2017;38:243\u201351.","journal-title":"Hum Mutat"},{"key":"1392_CR50","doi-asserted-by":"publisher","unstructured":"Pathak, A. K. et al. Pervasive ancestry bias in variant effect predictors. 2024.05.20.594987 Preprint at 2024. https:\/\/doi.org\/10.1101\/2024.05.20.594987.","DOI":"10.1101\/2024.05.20.594987"},{"key":"1392_CR51","doi-asserted-by":"publisher","unstructured":"Rastogi, R. et al. Critical assessment of missense variant effect predictors on disease-relevant variant data. 2024.06.06.597828 Preprint at 2024, https:\/\/doi.org\/10.1101\/2024.06.06.597828.","DOI":"10.1101\/2024.06.06.597828"},{"key":"1392_CR52","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/j.ajhg.2018.06.009","volume":"103","author":"Z Coban-Akdemir","year":"2018","unstructured":"Coban-Akdemir Z, et al. Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles. Am J Hum Genet. 2018;103:171\u201387.","journal-title":"Am J Hum Genet"},{"key":"1392_CR53","doi-asserted-by":"publisher","first-page":"1112","DOI":"10.1038\/ng.3664","volume":"48","author":"RGH Lindeboom","year":"2016","unstructured":"Lindeboom RGH, Supek F, Lehner B. The rules and impact of nonsense-mediated mRNA decay in human cancers. Nat Genet. 2016;48:1112\u20138.","journal-title":"Nat Genet"},{"key":"1392_CR54","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1038\/s41586-023-05896-x","volume":"617","author":"W-W Liao","year":"2023","unstructured":"Liao W-W, et al. A draft human pangenome reference. Nature. 2023;617:312\u201324.","journal-title":"Nature"},{"key":"1392_CR55","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1038\/s41586-020-2859-7","volume":"586","author":"A Choudhury","year":"2020","unstructured":"Choudhury A, et al. High-depth African genomes inform human migration and health. Nature. 2020;586:741\u20138.","journal-title":"Nature"},{"key":"1392_CR56","doi-asserted-by":"crossref","unstructured":"The \u201cAll of Us\u201d Research Program. N England J Med. 2019;381:668\u2013676.\u00a0https:\/\/www.nejm.org\/doi\/full\/10.1056\/NEJMsr1809937.","DOI":"10.1056\/NEJMsr1809937"},{"key":"1392_CR57","doi-asserted-by":"publisher","first-page":"2007","DOI":"10.1016\/j.cell.2022.05.010","volume":"185","author":"SS-J Lee","year":"2022","unstructured":"Lee SS-J, Appelbaum PS, Chung WK. Challenges and potential solutions to health disparities in genomic medicine. Cell. 2022;185:2007\u201310.","journal-title":"Cell"}],"container-title":["Genome Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13073-024-01392-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13073-024-01392-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13073-024-01392-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,3]],"date-time":"2024-12-03T09:04:27Z","timestamp":1733216667000},"score":1,"resource":{"primary":{"URL":"https:\/\/genomemedicine.biomedcentral.com\/articles\/10.1186\/s13073-024-01392-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,3]]},"references-count":57,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["1392"],"URL":"https:\/\/doi.org\/10.1186\/s13073-024-01392-7","relation":{},"ISSN":["1756-994X"],"issn-type":[{"value":"1756-994X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,3]]},"assertion":[{"value":"20 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 December 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"JRL has stock ownership in 23andMe, is a paid consultant for Regeneron Genetics Center, and is a coinventor on multiple US and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, and bacterial genomic fingerprinting. JRL serves on the Scientific Advisory Board of Baylor Genetics. EV, JRL, and RAG declare that Baylor Genetics is a Baylor College of Medicine affiliate that derives revenue from genetic testing. BCM and Miraca Holdings have formed a joint venture with shared ownership and governance of Baylor Genetics which performs clinical microarray analysis and other genomic studies (exome sequencing and whole genome sequencing) for patient and family care. EV is a co-founder of Codified Genomics, a provider of genetic interpretation. The remaining authors declare that they do not have any competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"143"}}