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Here, we investigated the contribution of common population-specific copy number variation (CNV) to gout in the Aotearoa NZ Polynesian population. Microarray-generated genome-wide genotype data from Aotearoa NZ Polynesian individuals with (n\u2009=\u20091196) and without (n\u2009=\u20091249) gout were analyzed. Comparator population groups were 552 individuals of European ancestry and 1962 of Han Chinese ancestry. Levels of circulating major histocompatibility complex (MHC) class I polypeptide-related sequence A (MICA) were measured by enzyme-linked immunosorbent assay. Fifty-four CNV regions (CNVRs) appearing in at least 10 individuals were detected, of which seven common (&amp;gt;2%) CNVRs were specific to or amplified in Polynesian people. A burden test of these seven revealed associations of insertion\/deletion with gout (odds ratio (OR) 95% confidence interval [CI]\u2009=\u20091.80 [1.01; 3.22], P\u2009=\u20090.046). Individually testing of the seven CNVRs for association with gout revealed nominal association of CNVR1 with gout in Western Polynesian (Chr6: 31.36\u201331.45\u00a0Mb, OR\u2009=\u20091.72 [1.03; 2.92], P\u2009=\u20090.04), CNVR6 in the meta-analyzed Polynesian sample sets (Chr1: 196.75\u2013196.92\u00a0Mb, OR\u2009=\u20091.86 [1.16; 3.00], P\u2009=\u20090.01) and CNVR9 in Western Polynesian (Chr1: 189.35\u2013189.54\u00a0Mb, OR\u2009=\u20092.75 [1.15; 7.13], P\u2009=\u20090.03). Analysis of European gout genetic association data demonstrated a signal of association at the CNVR1 locus that was an expression quantitative trait locus for MICA. The most common CNVR (CNVR1) includes deletion of the MICA gene, encoding an immunomodulatory protein. Expression of MICA was reduced in the serum of individuals with the deletion. In summary, we provide evidence for the association of CNVR1 containing MICA with gout in Polynesian people, implicating class I MHC-mediated antigen presentation in gout.<\/jats:p>","DOI":"10.1093\/hmg\/ddac094","type":"journal-article","created":{"date-parts":[[2022,4,20]],"date-time":"2022-04-20T19:16:22Z","timestamp":1650482182000},"page":"3757-3768","source":"Crossref","is-referenced-by-count":9,"title":["A Polynesian-specific copy number variant encompassing the MICA gene associates with gout"],"prefix":"10.1093","volume":"31","author":[{"given":"Ke","family":"Wang","sequence":"first","affiliation":[{"name":"Bio-X Institutes , Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, People\u2019s Republic of China"},{"name":"Department of Biochemistry , University of Otago, Dunedin 9054, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murray","family":"Cadzow","sequence":"additional","affiliation":[{"name":"Department of Biochemistry , University of Otago, Dunedin 9054, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt","family":"Bixley","sequence":"additional","affiliation":[{"name":"Department of Biochemistry , University of Otago, Dunedin 9054, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan P","family":"Leask","sequence":"additional","affiliation":[{"name":"Division of Clinical Immunology and Rheumatology , University of Alabama at Birmingham, Birmingham, AL 35233, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilyn E","family":"Merriman","sequence":"additional","affiliation":[{"name":"Department of Biochemistry , University of Otago, Dunedin 9054, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiangzhen","family":"Yang","sequence":"additional","affiliation":[{"name":"Bio-X Institutes , Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiqiang","family":"Li","sequence":"additional","affiliation":[{"name":"Bio-X Institutes , Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, People\u2019s Republic of China"},{"name":"Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes) , Qingdao University, Qingdao 266003, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riku","family":"Takei","sequence":"additional","affiliation":[{"name":"Department of Biochemistry , University of Otago, Dunedin 9054, New Zealand"},{"name":"Division of Clinical Immunology and Rheumatology , University of Alabama at Birmingham, Birmingham, AL 35233, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Phipps-Green","sequence":"additional","affiliation":[{"name":"Department of Biochemistry , University of Otago, Dunedin 9054, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya J","family":"Major","sequence":"additional","affiliation":[{"name":"Department of Biochemistry , University of Otago, Dunedin 9054, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth","family":"Topless","sequence":"additional","affiliation":[{"name":"Department of Biochemistry , University of Otago, Dunedin 9054, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Dalbeth","sequence":"additional","affiliation":[{"name":"Department of Medicine , University of Auckland, Auckland 1023, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"King","sequence":"additional","affiliation":[{"name":"Ngati Porou Hauora Charitable Trust , Te Puia Springs, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rinki","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Medicine , University of Auckland, Auckland 1023, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa K","family":"Stamp","sequence":"additional","affiliation":[{"name":"Department of Medicine , University of Otago, Christchurch 8013, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janak","family":"de Zoysa","sequence":"additional","affiliation":[{"name":"Department of Medicine , University of Auckland, Auckland 1023, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuo","family":"Wang","sequence":"additional","affiliation":[{"name":"Bio-X Institutes , Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongyong","family":"Shi","sequence":"additional","affiliation":[{"name":"Bio-X Institutes , Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai 200030, People\u2019s Republic of China"},{"name":"Biomedical Sciences Institute of Qingdao University (Qingdao Branch of SJTU Bio-X Institutes) , Qingdao University, Qingdao 266003, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0844-8726","authenticated-orcid":false,"given":"Tony R","family":"Merriman","sequence":"additional","affiliation":[{"name":"Department of Biochemistry , University of Otago, Dunedin 9054, New Zealand"},{"name":"Division of Clinical Immunology and Rheumatology , University of Alabama at Birmingham, Birmingham, AL 35233, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,4,22]]},"reference":[{"key":"2022102819580867900_ref1","doi-asserted-by":"crossref","first-page":"1843","DOI":"10.1016\/S0140-6736(21)00569-9","article-title":"Gout","volume":"397","author":"Dalbeth","year":"2021","journal-title":"Lancet"},{"key":"2022102819580867900_ref2","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1056\/NEJMcp030733","article-title":"Gout","volume":"349","author":"Terkeltaub","year":"2003","journal-title":"N. 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Biol."},{"key":"2022102819580867900_ref9","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1093\/hmg\/ddaa013","article-title":"Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control","volume":"29","author":"Boocock","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"2022102819580867900_ref10","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/s41584-018-0004-x","article-title":"An update on the genetics of hyperuricaemia and gout","volume":"14","author":"Major","year":"2018","journal-title":"Nat. Rev. Rheumatol."},{"key":"2022102819580867900_ref11","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1186\/s13075-017-1390-1","article-title":"Performance of gout definitions for genetic epidemiological studies: analysis of UK Biobank","volume":"19","author":"Cadzow","year":"2017","journal-title":"Arthritis Res. Ther."},{"key":"2022102819580867900_ref12","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1126\/science.1155174","article-title":"Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia","volume":"320","author":"Walsh","year":"2008","journal-title":"Science"},{"key":"2022102819580867900_ref13","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/ng1718","article-title":"APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy","volume":"38","author":"Rovelet-Lecrux","year":"2006","journal-title":"Nat. Genet."},{"key":"2022102819580867900_ref14","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.ajhg.2007.11.002","article-title":"Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation","volume":"82","author":"Froyen","year":"2008","journal-title":"Am. J. Hum. 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Genet."},{"key":"2022102819580867900_ref18","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1038\/ajg.2009.582","article-title":"Association of higher DEFB4 genomic copy number with Crohn's disease","volume":"105","author":"Bentley","year":"2010","journal-title":"Am. J. Gastroenterol."},{"key":"2022102819580867900_ref19","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1136\/ard.2007.075028","article-title":"Evidence for an influence of chemokine ligand 3-like 1 (CCL3L1) gene copy number on susceptibility to rheumatoid arthritis","volume":"67","author":"McKinney","year":"2008","journal-title":"Ann. Rheum. Dis."},{"key":"2022102819580867900_ref20","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.1136\/ard.2009.123588","article-title":"Association of variation in Fcgamma receptor 3B gene copy number with rheumatoid arthritis in Caucasian samples","volume":"69","author":"McKinney","year":"2010","journal-title":"Ann. Rheum. Dis."},{"key":"2022102819580867900_ref21","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1038\/gene.2012.15","article-title":"Evidence that deletion at FCGR3B is a risk factor for systemic sclerosis","volume":"13","author":"McKinney","year":"2012","journal-title":"Genes Immun."},{"key":"2022102819580867900_ref22","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1007\/s13238-017-0401-y","article-title":"Copy number variants of ABCF1, IL17REL, and FCGR3A are associated with the risk of gout","volume":"8","author":"Dong","year":"2017","journal-title":"Protein Cell"},{"key":"2022102819580867900_ref23","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1186\/1471-2156-15-81","article-title":"Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations","volume":"15","author":"Scharpf","year":"2014","journal-title":"BMC Genet."},{"key":"2022102819580867900_ref24","first-page":"8","article-title":"Gout in Aotearoa New Zealand: the equity crisis continues in plain sight","volume":"131","author":"Dalbeth","year":"2018","journal-title":"N. Z. Med. J."},{"key":"2022102819580867900_ref25","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.rdc.2020.07.008","article-title":"Gender and ethnic inequities in gout burden and management","volume":"46","author":"Guillen","year":"2020","journal-title":"Rheum. Dis. Clin. N. Am."},{"key":"2022102819580867900_ref26","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1136\/annrheumdis-2019-216233","article-title":"Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout","volume":"79","author":"Kl\u00fcck","year":"2020","journal-title":"Ann. Rheum. 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Rheumatol."},{"key":"2022102819580867900_ref29","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1007\/s00125-018-4623-1","article-title":"Discordant association of the CREBRF rs373863828 A allele with increased BMI and protection from type 2 diabetes in M\u0101ori and Pacific (Polynesian) people living in Aotearoa\/New Zealand","volume":"61","author":"Krishnan","year":"2018","journal-title":"Diabetologia"},{"key":"2022102819580867900_ref30","first-page":"bax028","article-title":"GeneHancer: genome-wide integration of enhancers and target genes in GeneCards","author":"Fishilevich","year":"2017","journal-title":"Database"},{"key":"2022102819580867900_ref31","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1016\/j.cell.2014.11.021","article-title":"A 3D map of the human genome at kilobase resolution reveals principles of chromatin loopomg","volume":"7","author":"Rao","year":"2014","journal-title":"Cell"},{"key":"2022102819580867900_ref32","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1097\/QAD.0b013e32831db247","article-title":"Association of HLA-C and HCP5 gene regions with the clinical course of HIV-1 infection","volume":"23","author":"van Manen","year":"2009","journal-title":"AIDS"},{"key":"2022102819580867900_ref33","doi-asserted-by":"crossref","first-page":"e3277","DOI":"10.1210\/clinem\/dgaa347","article-title":"An intronic HCP5 variant is associated with age of onset and ausceptibility to Graves disease in UK and Polish cohorts","volume":"105","author":"Lane","year":"2020","journal-title":"J. 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Genet."},{"key":"2022102819580867900_ref36","doi-asserted-by":"crossref","first-page":"e0145774","DOI":"10.1371\/journal.pone.0145774","article-title":"A genome wide study of copy number variation associated with nasopharyngeal carcinoma in Malaysian Chinese identifies CNVs at 11q14.3 and 6p21.3 as candidate loci","volume":"11","author":"Low","year":"2016","journal-title":"PLoS One"},{"key":"2022102819580867900_ref37","doi-asserted-by":"crossref","first-page":"1774","DOI":"10.1093\/hmg\/ddu581","article-title":"Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes","volume":"24","author":"Cooper","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"2022102819580867900_ref38","doi-asserted-by":"crossref","first-page":"113018","DOI":"10.1016\/j.psychres.2020.113018","article-title":"Copy number variants in siblings of Mexican origin concordant for schizophrenia or bipolar disorder","volume":"291","author":"Vega-Sevey","year":"2020","journal-title":"Psychiatry Res."},{"key":"2022102819580867900_ref39","first-page":"A6322","article-title":"A recurrent hemizygous deletion at the MHC region impacting MICA, LINC01149, HCP5, HCG26 associates with idiopathic pulmonary hemosiderosis","volume":"197","author":"Vazquez-Garcia","year":"2018","journal-title":"Am. J. Resp. Crit. Care Med."},{"key":"2022102819580867900_ref40","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1126\/science.285.5428.727","article-title":"Activation of NK cells and T cells by NKG2D, a receptor for stress-inducible MICA","volume":"285","author":"Bauer","year":"1999","journal-title":"Science"},{"key":"2022102819580867900_ref41","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.2217\/imt.11.102","article-title":"NK cells: immune cross-talk and therapeutic implications","volume":"3","author":"Malhotra","year":"2011","journal-title":"Immunotherapy"},{"key":"2022102819580867900_ref42","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1189\/jlb.0510250","article-title":"The defensive alliance between neutrophils and NK cells as a novel arm of innate immunity","volume":"89","author":"Costantini","year":"2011","journal-title":"J. Leukoc. Biol."},{"key":"2022102819580867900_ref43","doi-asserted-by":"crossref","DOI":"10.1080\/2162402X.2021.2016159","article-title":"Uric acid accumulation in DNA-damageed tumor cells induces NKG2D ligand expression and antitumor immunity by activating TGF-\u03b2-activated kinase 1","volume":"11","author":"Wang","year":"2022","journal-title":"OncoImmunology"},{"key":"2022102819580867900_ref44","doi-asserted-by":"crossref","first-page":"59220","DOI":"10.18632\/oncotarget.11042","article-title":"Xanthine oxidoreductase is required for genotoxic stress-induced NKG2D ligand expresson and gemcitabine-mediated antitumor activity","volume":"7","author":"Xu","year":"2016","journal-title":"Oncotarget"},{"key":"2022102819580867900_ref45","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1186\/1471-2407-11-194","article-title":"Major histocompatibility complex class I-related chain A\/B (MICA\/B) expression in tumor tissue and serum of pancreatic cancer: role of uric acid accumulation in gemcitabine-induced MICA\/B expression","volume":"11","author":"Xu","year":"2011","journal-title":"BMC Cancer"},{"key":"2022102819580867900_ref46","doi-asserted-by":"crossref","first-page":"e1007005","DOI":"10.1371\/journal.pgen.1007005","article-title":"The relative contribution of DNA methylation and genetic variants on protein biomarkers for human diseases","volume":"13","author":"Ahsan","year":"2017","journal-title":"PLoS Genet."},{"key":"2022102819580867900_ref47","doi-asserted-by":"crossref","first-page":"e1006011","DOI":"10.1371\/journal.pgen.1006011","article-title":"Common genetic polymorphisms influence bllod biomarker measurements in COPD","volume":"12","author":"Sun","year":"2016","journal-title":"PLoS Genet."},{"key":"2022102819580867900_ref48","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1038\/ng.513","article-title":"Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci","volume":"42","author":"Australo-Anglo-American Spondyloarthritis Consortium (TASC)","year":"2010","journal-title":"Nat. Genet."},{"key":"2022102819580867900_ref49","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1038\/s41588-021-00931-x","article-title":"A cross-population atlas of genetic associations for 220 human phenotypes","volume":"53","author":"Sakaue","year":"2021","journal-title":"Nat. Genet."},{"key":"2022102819580867900_ref50","doi-asserted-by":"crossref","first-page":"e8333","DOI":"10.1590\/1414-431x20198333","article-title":"Screening potential prognostic biomarkers of long non-coding RNAs for predicting the risk of chronic kidney disease","volume":"52","author":"Li","year":"2019","journal-title":"Braz. J. Med. Biol. Res."},{"key":"2022102819580867900_ref51","article-title":"LncRNA HCP5 participates in the Tregs functions in allergic rhinitis and rives airway mucosal inflammatory response in the nasal epithelial cells","author":"Yang","year":"2022","journal-title":"Inflammation"},{"key":"2022102819580867900_ref52","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.cca.2020.11.015","article-title":"Long non-coding RNA HCP5 in cancer","volume":"512","author":"Zou","year":"2021","journal-title":"Clin. Chim. Acta"},{"key":"2022102819580867900_ref53","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1038\/s41588-018-0298-2","article-title":"Immune genes are primed for robust transcription by proximal long noncoding RNAs located in nuclear compartments","volume":"51","author":"Fanucchi","year":"2019","journal-title":"Nat. Genet."},{"key":"2022102819580867900_ref54","doi-asserted-by":"crossref","first-page":"4813","DOI":"10.1093\/hmg\/ddq412","article-title":"A strong role for the ABCG2 gene in susceptibility to gout in New Zealand Pacific Island and Caucasian, but not M\u0101ori, case and control sample sets","volume":"19","author":"Phipps-Green","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"2022102819580867900_ref55","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/s13075-017-1254-8","article-title":"Population-specific association between ABCG2 variants and tophaceous disease in people with gout","volume":"19","author":"He","year":"2017","journal-title":"Arthritis. Res. Ther."},{"key":"2022102819580867900_ref56","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1002\/art.1780200320","article-title":"Preliminary criteria for the classification of the acute arthritis of primary gout","volume":"20","author":"Wallace","year":"1977","journal-title":"Arthritis Rheum."},{"key":"2022102819580867900_ref57","doi-asserted-by":"crossref","first-page":"7041","DOI":"10.1038\/ncomms8041","article-title":"Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese","volume":"6","author":"Li","year":"2015","journal-title":"Nat. Commun."},{"key":"2022102819580867900_ref58","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1038\/mp.2013.98","article-title":"Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample","volume":"18","author":"Szatkiewicz","year":"2013","journal-title":"Mol. Psychiatry"},{"key":"2022102819580867900_ref59","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1101\/gr.6861907","article-title":"PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data","volume":"17","author":"Wang","year":"2007","journal-title":"Genome Res."},{"key":"2022102819580867900_ref60","doi-asserted-by":"crossref","first-page":"e126","DOI":"10.1093\/nar\/gkn556","article-title":"Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms","volume":"36","author":"Diskin","year":"2008","journal-title":"Nucl. Acids Res."},{"key":"2022102819580867900_ref61","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1161\/CIRCRESAHA.115.304458","article-title":"Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data","volume":"115","author":"Glessner","year":"2014","journal-title":"Circ. Res."},{"key":"2022102819580867900_ref62","doi-asserted-by":"crossref","first-page":"1790","DOI":"10.1093\/bioinformatics\/bts239","article-title":"CNVRuler: a copy number variation-based case-control association analysis tool","volume":"28","author":"Kim","year":"2012","journal-title":"Bioinformatics"},{"key":"2022102819580867900_ref63","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"2022102819580867900_ref64","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/s41586-018-0579-z","article-title":"The UK Biobank resource with deep phenotyping and genomic data","volume":"562","author":"Bycroft","year":"2018","journal-title":"Nature"},{"key":"2022102819580867900_ref65","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage studies","volume":"81","author":"Purcell","year":"2007","journal-title":"Am. 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