{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T12:11:34Z","timestamp":1793016694787,"version":"4.5.0"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"3-4","license":[{"start":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T00:00:00Z","timestamp":1631491200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T00:00:00Z","timestamp":1631491200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"crossref","award":["R01DC018583"],"award-info":[{"award-number":["R01DC018583"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100017649","name":"Claire Giannini Fund","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100017649","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Understanding racial and ethnic disparities in diagnostic rates of genetic testing is critical for health equity. We sought to understand the extent and cause of racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing (CGT) for sensorineural hearing loss (SNHL). We performed a retrospective cohort study at two tertiary children\u2019s hospitals on a diverse cohort of 240 consecutive pediatric patients (76% publicly insured, 82% non-White) with SNHL of unknown etiology who underwent CGT. Definite and possible genetic diagnoses were assigned for each patient, representing the likelihood of a genetic cause of hearing loss. Associations between diagnostic rates were examined. 3.8\u2009\u00b1\u20092.1 variants were detected per patient; this frequency did not vary between White\/Asian and Hispanic\/Black cohorts. Overall, 82% of variants were variants of uncertain significance (VUS). Compared with White and Asian subjects, variants identified among Hispanic and Black children were less likely to be classified as pathogenic\/likely pathogenic (15% vs. 24%,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001), and Hispanic and Black children were less likely to have a definite genetic diagnosis (10% vs. 37%,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001). The adjusted odds ratio for definite genetic diagnosis in Black and Hispanic children compared with White and Asian children was 0.19. Expanding genetic diagnostic criteria to include predicted deleterious VUSs reduced these disparities between White\/Asian and Hispanic\/Black children, with comparable molecular diagnostic rates (41% vs. 38%,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.72). However, in silico predictions are insufficiently valid for clinical use. Increased inclusion of underrepresented groups in genetic hearing-loss studies to clinically validate these variants is necessary to reduce racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing.\n                  <\/jats:p>","DOI":"10.1007\/s00439-021-02338-4","type":"journal-article","created":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T03:04:31Z","timestamp":1631502271000},"page":"495-504","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss"],"prefix":"10.1007","volume":"141","author":[{"given":"Michelle M.","family":"Florentine","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie L.","family":"Rouse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jihyun","family":"Stephans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Conrad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josephine","family":"Czechowicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian R.","family":"Matthews","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna K.","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garani S.","family":"Nadaraja","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajan","family":"Parikh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan","family":"Virbalas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline E.","family":"Weinstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0836-3730","authenticated-orcid":false,"given":"Dylan K.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,9,13]]},"reference":[{"key":"2338_CR1","unstructured":"ACMG (2015) Analysis TD, Review D. and variant on process data analysis classification"},{"issue":"6","key":"2338_CR2","doi-asserted-by":"publisher","first-page":"1067","DOI":"10.1016\/j.ajhg.2016.03.024","volume":"98","author":"LM Amendola","year":"2016","unstructured":"Amendola LM, Jarvik GP, Leo MC et al (2016) Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet 98(6):1067\u20131076. https:\/\/doi.org\/10.1016\/j.ajhg.2016.03.024","journal-title":"Am J Hum Genet"},{"issue":"4","key":"2338_CR3","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1038\/gim.2015.89","volume":"18","author":"G Bademci","year":"2016","unstructured":"Bademci G, Foster J, Mahdieh N et al (2016) Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive non-syndromic deafness in a large multiethnic cohort. Genet Med 18(4):364\u2013371. https:\/\/doi.org\/10.1038\/gim.2015.89","journal-title":"Genet Med"},{"key":"2338_CR4","doi-asserted-by":"publisher","unstructured":"Booth KT (2018) Unraveling the genotypic and phenotypic complexities of genetic hearing loss. https:\/\/doi.org\/10.17077\/etd.h3om-klhg","DOI":"10.17077\/etd.h3om-klhg"},{"key":"2338_CR5","doi-asserted-by":"publisher","DOI":"10.1002\/lary.29193","author":"KD Brodie","year":"2020","unstructured":"Brodie KD, Moore AT, Slavotinek AM et al (2020) Genetic testing leading to early identification of childhood ocular manifestations of Usher syndrome. Laryngoscope. https:\/\/doi.org\/10.1002\/lary.29193","journal-title":"Laryngoscope"},{"issue":"2","key":"2338_CR6","doi-asserted-by":"publisher","first-page":"E34","DOI":"10.1002\/lary.24332","volume":"124","author":"DK Chan","year":"2014","unstructured":"Chan DK, Chang KW (2014) GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype. Laryngoscope 124(2):E34-53. https:\/\/doi.org\/10.1002\/lary.24332","journal-title":"Laryngoscope"},{"issue":"1","key":"2338_CR7","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1080\/14737159.2017.1267567","volume":"17","author":"D Cragun","year":"2017","unstructured":"Cragun D, Kinney AY, Pal T (2017) Care delivery considerations for widespread and equitable implementation of inherited cancer predisposition testing. Expert Rev Mol Diagn 17(1):57\u201370. https:\/\/doi.org\/10.1080\/14737159.2017.1267567","journal-title":"Expert Rev Mol Diagn"},{"issue":"11","key":"2338_CR8","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1016\/j.tig.2020.07.001","volume":"36","author":"TL Edwards","year":"2020","unstructured":"Edwards TL, Breeyear J, Piekos JA, Edwards DRV (2020) Equity in health: consideration of race and ethnicity in precision medicine. Trends Genet 36(11):807\u2013809. https:\/\/doi.org\/10.1016\/j.tig.2020.07.001","journal-title":"Trends Genet"},{"issue":"7312","key":"2338_CR9","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1136\/bmj.323.7312.536","volume":"323","author":"HM Fortnum","year":"2001","unstructured":"Fortnum HM, Summerfield AQ, Marshall DH, Davis AC, Bamford JM (2001) Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study. BMJ 323(7312):536","journal-title":"BMJ"},{"issue":"2","key":"2338_CR10","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1002\/humu.9216","volume":"23","author":"NMA Gasmelseed","year":"2004","unstructured":"Gasmelseed NMA, Schmidt M, Magzoub MMA et al (2004) Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. Hum Mutat 23(2):206\u2013207. https:\/\/doi.org\/10.1002\/humu.9216","journal-title":"Hum Mutat"},{"key":"2338_CR11","unstructured":"GeneDx (2015) Test Information Sheet\u2014XomeDx, pp 10\u201313"},{"issue":"4","key":"2338_CR12","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1001\/jamacardio.2017.5345","volume":"3","author":"GS Gerhard","year":"2018","unstructured":"Gerhard GS, Fisher SG, Feldman AM (2018) Genetic testing for inherited cardiac diseases in underserved populations of non-European ancestry: double disparity. JAMA Cardiol 3(4):273. https:\/\/doi.org\/10.1001\/jamacardio.2017.5345","journal-title":"JAMA Cardiol"},{"issue":"14","key":"2338_CR13","doi-asserted-by":"publisher","first-page":"1783","DOI":"10.1001\/jama.293.14.1783","volume":"293","author":"M Hall","year":"2005","unstructured":"Hall M, Olopade OI (2005) Confronting genetic testing disparities knowledge is power. JAMA 293(14):1783\u20131785. https:\/\/doi.org\/10.1001\/jama.293.14.1783","journal-title":"JAMA"},{"issue":"14","key":"2338_CR14","doi-asserted-by":"publisher","first-page":"2197","DOI":"10.1200\/JCO.2006.05.5889","volume":"24","author":"MJ Hall","year":"2006","unstructured":"Hall MJ, Olopade OI (2006) Disparities in genetic testing: thinking outside the BRCA box. J Clin Oncol 24(14):2197\u20132203. https:\/\/doi.org\/10.1200\/JCO.2006.05.5889","journal-title":"J Clin Oncol"},{"key":"2338_CR15","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/0471142905.hg0816s89","volume":"89","author":"SM Harrison","year":"2016","unstructured":"Harrison SM, Riggs ER, Maglott DR et al (2016) Using ClinVar as a resource to support variant interpretations. Curr Protoc Hum Genet 89:8\u201316. https:\/\/doi.org\/10.1002\/0471142905.hg0816s89","journal-title":"Curr Protoc Hum Genet"},{"issue":"2\u20133","key":"2338_CR16","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.mrrev.2008.08.002","volume":"681","author":"N Hilgert","year":"2009","unstructured":"Hilgert N, Smith RJH, Van Camp G (2009) Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 681(2\u20133):189\u2013196. https:\/\/doi.org\/10.1016\/j.mrrev.2008.08.002","journal-title":"Mutat Res"},{"issue":"8","key":"2338_CR17","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1097\/GIM.0b013e3181e5afb8","volume":"12","author":"WJ Kimberling","year":"2010","unstructured":"Kimberling WJ, Hildebrand MS, Shearer AE et al (2010) Frequency of Usher syndrome in two pediatric populations: implications for genetic screening of deaf and hard of hearing children. Genet Med 12(8):512\u2013516. https:\/\/doi.org\/10.1097\/GIM.0b013e3181e5afb8","journal-title":"Genet Med"},{"issue":"4","key":"2338_CR18","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1001\/jamacardio.2017.5333","volume":"3","author":"LG Landry","year":"2018","unstructured":"Landry LG, Rehm HL (2018) Association of racial\/ethnic categories with the ability of genetic tests to detect a cause of cardiomyopathy. JAMA Cardiol 3(4):341. https:\/\/doi.org\/10.1001\/jamacardio.2017.5333","journal-title":"JAMA Cardiol"},{"key":"2338_CR19","doi-asserted-by":"publisher","DOI":"10.11604\/pamj.2015.20.383.5230","author":"K Lebeko","year":"2015","unstructured":"Lebeko K, Bosch J, Noubiap JJN, Dandara C, Wonkam A (2015) Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward. Pan Afr Med J. https:\/\/doi.org\/10.11604\/pamj.2015.20.383.5230","journal-title":"Pan Afr Med J"},{"key":"2338_CR20","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1016\/j.ijporl.2016.09.016","volume":"90","author":"BJ Liming","year":"2016","unstructured":"Liming BJ, Carter J, Cheng A et al (2016) International Pediatric Otolaryngology Group (IPOG) consensus recommendations: hearing loss in the pediatric patient. Int J Pediatr Otorhinolaryngol 90:251\u2013258. https:\/\/doi.org\/10.1016\/j.ijporl.2016.09.016","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"7","key":"2338_CR21","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1056\/NEJMsa1507092","volume":"375","author":"AK Manrai","year":"2016","unstructured":"Manrai AK, Funke BH, Rehm HL et al (2016) Genetic misdiagnoses and the potential for health disparities. N Engl J Med 375(7):655\u2013665. https:\/\/doi.org\/10.1056\/NEJMsa1507092","journal-title":"N Engl J Med"},{"issue":"5","key":"2338_CR22","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1002\/ajmg.1320460504","volume":"46","author":"ML Marazita","year":"1993","unstructured":"Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE (1993) Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 46(5):486\u2013491. https:\/\/doi.org\/10.1002\/ajmg.1320460504","journal-title":"Am J Med Genet"},{"issue":"20","key":"2338_CR23","doi-asserted-by":"publisher","first-page":"2151","DOI":"10.1056\/NEJMra050700","volume":"354","author":"CC Morton","year":"2006","unstructured":"Morton CC, Nance WE (2006) Newborn hearing screening\u2014a silent revolution. N Engl J Med 354(20):2151\u20132164. https:\/\/doi.org\/10.1056\/NEJMra050700","journal-title":"N Engl J Med"},{"issue":"5","key":"2338_CR24","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"On behalf of the ACMG Laboratory Quality Assurance Committee, Richards S, Aziz N et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405\u2013423. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"issue":"11","key":"2338_CR25","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1002\/humu.23630","volume":"39","author":"AM Oza","year":"2018","unstructured":"Oza AM, DiStefano MT, Hemphill SE et al (2018) Expert specification of the ACMG\/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat 39(11):1593\u20131613. https:\/\/doi.org\/10.1002\/humu.23630","journal-title":"Hum Mutat"},{"issue":"3","key":"2338_CR26","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1001\/jamaoto.2020.5030","volume":"147","author":"ZJ Qian","year":"2021","unstructured":"Qian ZJ, Chang KW, Ahmad IN, Tribble MS, Cheng AG (2021) Use of diagnostic testing and intervention for sensorineural hearing loss in US children from 2008 to 2018. JAMA Otolaryngol Neck Surg 147(3):253\u2013260. https:\/\/doi.org\/10.1001\/jamaoto.2020.5030","journal-title":"JAMA Otolaryngol Neck Surg"},{"key":"2338_CR27","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"2338_CR28","doi-asserted-by":"crossref","unstructured":"Rouse SL, Florentine MM, Taketa E, Chan DK (2021) Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis. Rev Hum Genet","DOI":"10.1007\/s00439-021-02335-7"},{"issue":"3","key":"2338_CR29","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1007\/s10549-012-2202-6","volume":"135","author":"J Shan","year":"2012","unstructured":"Shan J, Mahfoudh W, Dsouza SP et al (2012) Genome-wide association studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians. Breast Cancer Res Treat 135(3):715\u2013724. https:\/\/doi.org\/10.1007\/s10549-012-2202-6","journal-title":"Breast Cancer Res Treat"},{"issue":"2","key":"2338_CR30","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1177\/0194599815591156","volume":"153","author":"AE Shearer","year":"2015","unstructured":"Shearer AE, Smith RJH (2015) Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care. Otolaryngol Head Neck Surg 153(2):175\u2013182. https:\/\/doi.org\/10.1177\/0194599815591156","journal-title":"Otolaryngol Head Neck Surg"},{"issue":"1\u20132","key":"2338_CR31","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.heares.2011.10.001","volume":"282","author":"AE Shearer","year":"2011","unstructured":"Shearer AE, Hildebrand MS, Sloan CM, Smith RJH (2011) Deafness in the genomics era. Hear Res 282(1\u20132):1\u20139. https:\/\/doi.org\/10.1016\/j.heares.2011.10.001","journal-title":"Hear Res"},{"issue":"11","key":"2338_CR32","doi-asserted-by":"publisher","first-page":"2614","DOI":"10.1038\/s41436-019-0563-5","volume":"21","author":"AE Shearer","year":"2019","unstructured":"Shearer AE, Shen J, Amr S, Morton CC, Smith RJ (2019) A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children. Genet Med 21(11):2614\u20132630. https:\/\/doi.org\/10.1038\/s41436-019-0563-5","journal-title":"Genet Med"},{"key":"2338_CR33","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1007\/s00439-016-1648-8","volume":"135","author":"CM Sloan-Heggen","year":"2016","unstructured":"Sloan-Heggen CM, Bierer AO, Shearer AE et al (2016) Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet 135:441\u2013450. https:\/\/doi.org\/10.1007\/s00439-016-1648-8","journal-title":"Hum Genet"},{"issue":"9462","key":"2338_CR34","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1016\/S0140-6736(05)71047-3","volume":"365","author":"RJH Smith","year":"2005","unstructured":"Smith RJH, Bale JF, White KR (2005) Sensorineural hearing loss in children. Lancet Lond Engl 365(9462):879\u2013890. https:\/\/doi.org\/10.1016\/S0140-6736(05)71047-3","journal-title":"Lancet Lond Engl"},{"issue":"8","key":"2338_CR35","doi-asserted-by":"publisher","first-page":"1367","DOI":"10.1377\/hlthaff.2015.1476","volume":"35","author":"CE Smith","year":"2016","unstructured":"Smith CE, Fullerton SM, Dookeran KA et al (2016) Using genetic technologies to reduce, rather than widen, health disparities. Health Aff Proj Hope 35(8):1367\u20131373. https:\/\/doi.org\/10.1377\/hlthaff.2015.1476","journal-title":"Health Aff Proj Hope"},{"issue":"3","key":"2338_CR36","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/s0738-3991(02)00219-7","volume":"51","author":"HS Thompson","year":"2003","unstructured":"Thompson HS, Valdimarsdottir HB, Jandorf L, Redd W (2003) Perceived disadvantages and concerns about abuses of genetic testing for cancer risk: differences across African American, Latina and Caucasian women. Patient Educ Couns 51(3):217\u2013227. https:\/\/doi.org\/10.1016\/s0738-3991(02)00219-7","journal-title":"Patient Educ Couns"},{"issue":"8","key":"2338_CR37","doi-asserted-by":"publisher","first-page":"953","DOI":"10.1007\/s00439-016-1697-z","volume":"135","author":"D Yan","year":"2016","unstructured":"Yan D, Tekin D, Bademci G et al (2016) Spectrum of DNA variants for nonsyndromic deafness in a large cohort from multiple continents. Hum Genet 135(8):953\u2013961. https:\/\/doi.org\/10.1007\/s00439-016-1697-z","journal-title":"Hum Genet"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-021-02338-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-021-02338-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-021-02338-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,23]],"date-time":"2022-04-23T03:07:24Z","timestamp":1650683244000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-021-02338-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,13]]},"references-count":37,"journal-issue":{"issue":"3-4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["2338"],"URL":"https:\/\/doi.org\/10.1007\/s00439-021-02338-4","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-482542\/v1","asserted-by":"object"}]},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,13]]},"assertion":[{"value":"30 April 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 August 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 September 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study was approved by the Institutional Review Board at UCSF.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent"}}]}}