{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T19:24:44Z","timestamp":1791487484633,"version":"4.3.4"},"reference-count":78,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T00:00:00Z","timestamp":1654128000000},"content-version":"vor","delay-in-days":183,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["5U01 HG009080"],"award-info":[{"award-number":["5U01 HG009080"]}],"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":["R01HG010140"],"award-info":[{"award-number":["R01HG010140"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000092","name":"U.S. National Library of Medicine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000092","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005492","name":"Stanford University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005492","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2021,12]]},"DOI":"10.1016\/j.ajhg.2021.11.005","type":"journal-article","created":{"date-parts":[[2021,11,24]],"date-time":"2021-11-24T10:40:06Z","timestamp":1637750406000},"page":"2354-2367","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Bayesian model comparison for rare-variant association studies"],"prefix":"10.1016","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0754-6631","authenticated-orcid":false,"given":"Guhan Ram","family":"Venkataraman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"DeBoever","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosuke","family":"Tanigawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Aguirre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander G.","family":"Ioannidis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakhamanesh","family":"Mostafavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris C.A.","family":"Spencer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy","family":"Poterba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos D.","family":"Bustamante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J.","family":"Daly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matti","family":"Pirinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1457-9925","authenticated-orcid":false,"given":"Manuel A.","family":"Rivas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2021.11.005_bib1","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population scale sequencing","volume":"467","author":"Abecasis","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.11.005_bib2","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1126\/science.1167728","article-title":"Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes","volume":"324","author":"Nejentsev","year":"2009","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2021.11.005_bib3","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1038\/ng.952","article-title":"Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease","volume":"43","author":"Rivas","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib4","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature11632","article-title":"An integrated map of genetic variation from 1,092 human genomes","volume":"491","author":"Abecasis","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.11.005_bib5","doi-asserted-by":"crossref","first-page":"13127","DOI":"10.1073\/pnas.1410428111","article-title":"Rare variants in pparg with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes","volume":"111","author":"Majithia","year":"2014","journal-title":"Proceedings of the National Academy of Sciences"},{"key":"10.1016\/j.ajhg.2021.11.005_bib6","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.ajhg.2014.06.009","article-title":"Rare-variant association analysis: study designs and statistical tests","volume":"95","author":"Lee","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib7","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1038\/ng.2852","article-title":"Meta-analysis of gene-level tests for rare variant association","volume":"46","author":"Liu","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib8","doi-asserted-by":"crossref","first-page":"1981","DOI":"10.1093\/bioinformatics\/btw052","article-title":"metaCCA: summary statistics-based multivariate meta-analysis of genome-wide association studies using canonical correlation analysis","volume":"32","author":"Cichonska","year":"2016","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2021.11.005_bib9","doi-asserted-by":"crossref","first-page":"e65245","DOI":"10.1371\/journal.pone.0065245","article-title":"A unified framework for association analysis with multiple related phenotypes","volume":"8","author":"Stephens","year":"2013","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2021.11.005_bib10","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1038\/ng.3570","article-title":"Detection and interpretation of shared genetic influences on 42 human traits","volume":"48","author":"Pickrell","year":"2016","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib11","doi-asserted-by":"crossref","first-page":"2419","DOI":"10.1093\/bioinformatics\/btt409","article-title":"Assessing association between protein truncating variants and quantitative traits","volume":"29","author":"Rivas","year":"2013","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2021.11.005_bib12","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1126\/science.1261877","article-title":"Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome","volume":"348","author":"Rivas","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2021.11.005_bib13","article-title":"Regional missense constraint improves variant deleteriousness prediction","author":"Samocha","year":"2017","journal-title":"bioRxiv"},{"key":"10.1016\/j.ajhg.2021.11.005_bib14","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1038\/s41588-019-0383-1","article-title":"Measuring intolerance to mutation in human genetics","volume":"51","author":"Fuller","year":"2019","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib15","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/ng1509","article-title":"Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9","volume":"37","author":"Cohen","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib16","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1056\/NEJMoa054013","article-title":"Sequence variations in PCSK9, low LDL, and protection against coronary heart disease","volume":"354","author":"Cohen","year":"2006","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2021.11.005_bib17","doi-asserted-by":"crossref","first-page":"2497","DOI":"10.1001\/jama.2012.25790","article-title":"Effect of a monoclonal antibody to PCSK9 on low-density lipoprotein cholesterol levels in statin-intolerant patients: the GAUSS randomized trial","volume":"308","author":"Sullivan","year":"2012","journal-title":"JAMA"},{"key":"10.1016\/j.ajhg.2021.11.005_bib18","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.ajhg.2011.05.029","article-title":"Rare-variant association testing for sequencing data with the sequence kernel association test","volume":"89","author":"Wu","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib19","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/s41588-020-00757-z","article-title":"Genetics of 35 blood and urine biomarkers in the UK Biobank","volume":"53","author":"Sinnott-Armstrong","year":"2021","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib20","doi-asserted-by":"crossref","first-page":"e1003509","DOI":"10.1371\/journal.pgen.1003509","article-title":"Imputation-based meta-analysis of severe malaria in three African populations","volume":"9","author":"Band","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib21","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1126\/science.1215040","article-title":"A systematic survey of loss-of-function variants in human protein-coding genes","volume":"335","author":"MacArthur","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2021.11.005_bib22","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1038\/nature13695","article-title":"Saturation editing of genomic regions by multiplex homology-directed repair","volume":"513","author":"Findlay","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.11.005_bib23","doi-asserted-by":"crossref","first-page":"e1001322","DOI":"10.1371\/journal.pgen.1001322","article-title":"Testing for an unusual distribution of rare variants","volume":"7","author":"Neale","year":"2011","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib24","doi-asserted-by":"crossref","first-page":"e1003694","DOI":"10.1371\/journal.pgen.1003694","article-title":"A flexible approach for the analysis of rare variants allowing for a mixture of effects on binary or quantitative traits","volume":"9","author":"Clarke","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib25","doi-asserted-by":"crossref","first-page":"e1002254","DOI":"10.1371\/journal.pgen.1002254","article-title":"Pervasive sharing of genetic effects in autoimmune disease","volume":"7","author":"Cotsapas","year":"2011","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib26","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/nrg3461","article-title":"Pleiotropy in complex traits: challenges and strategies","volume":"14","author":"Solovieff","year":"2013","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib27","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1038\/ng.3406","article-title":"An atlas of genetic correlations across human diseases and traits","volume":"47","author":"Bulik-Sullivan","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib28","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/nature13917","article-title":"Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction","volume":"518","author":"Do","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.11.005_bib29","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1038\/ng.2795","article-title":"Common variants associated with plasma triglycerides and risk for coronary artery disease","volume":"45","author":"Do","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib30","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1056\/NEJMoa1307095","article-title":"Loss-of-function mutations in APOC3, triglycerides, and coronary disease","volume":"371","author":"Crosby","year":"2014","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2021.11.005_bib31","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1016\/j.csda.2009.11.025","article-title":"Computing the distribution of quadratic forms: Further comparisons between the liu-tang-zhang approximation and exact methods","volume":"54","author":"Duchesne","year":"2010","journal-title":"Comput. Stat. Data Anal."},{"key":"10.1016\/j.ajhg.2021.11.005_bib32","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.11.005_bib33","doi-asserted-by":"crossref","first-page":"eaay5012","DOI":"10.1126\/science.aay5012","article-title":"Insights into human genetic variation and population history from 929 diverse genomes","volume":"367","author":"Bergstr\u00f6m","year":"2020","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2021.11.005_bib34","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/nature18964","article-title":"The Simons Genome Diversity Project: 300 genomes from 142 diverse populations","volume":"538","author":"Mallick","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.11.005_bib35","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1186\/1471-2105-12-246","article-title":"Enhancements to the ADMIXTURE algorithm for individual ancestry estimation","volume":"12","author":"Alexander","year":"2011","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.ajhg.2021.11.005_bib36","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1016\/j.ajhg.2013.06.020","article-title":"Rfmix: a discriminative modeling approach for rapid and robust local-ancestry inference","volume":"93","author":"Maples","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib37","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13059-016-0974-4","article-title":"The ensembl variant effect predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2021.11.005_bib38","doi-asserted-by":"crossref","first-page":"2495","DOI":"10.1093\/bioinformatics\/bty999","article-title":"Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics","volume":"35","author":"McInnes","year":"2019","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2021.11.005_bib39","article-title":"Multidimensional clustering algorithms. compstat lect. 4. lect","author":"Murtagh","year":"1985","journal-title":"Comput. Stat."},{"key":"10.1016\/j.ajhg.2021.11.005_bib40","doi-asserted-by":"crossref","first-page":"1702","DOI":"10.1126\/science.1161524","article-title":"A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection","volume":"322","author":"Pollin","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2021.11.005_bib41","doi-asserted-by":"crossref","first-page":"e251","DOI":"10.1016\/j.atherosclerosis.2016.07.063","article-title":"Loss-of-function mutations in apoc3, remnant cholesterol, ldl cholesterol, and risk of ischemic vascular disease","volume":"252","author":"J\u00f8rgensen","year":"2016","journal-title":"Atherosclerosis"},{"key":"10.1016\/j.ajhg.2021.11.005_bib42","doi-asserted-by":"crossref","first-page":"e1001035","DOI":"10.1371\/journal.pgen.1001035","article-title":"Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene","volume":"6","author":"Kapur","year":"2010","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib43","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.ajhg.2020.01.017","article-title":"Genome-wide association study for vitamin d levels reveals 69 independent loci","volume":"106","author":"Manousaki","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib44","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1038\/s41588-018-0047-6","article-title":"Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases","volume":"50","author":"Kanai","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib45","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1194\/jlr.M076232","article-title":"A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms","volume":"58","author":"Mack","year":"2017","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.ajhg.2021.11.005_bib46","doi-asserted-by":"crossref","first-page":"e1003062","DOI":"10.1371\/journal.pmed.1003062","article-title":"Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable mendelian randomisation analysis","volume":"17","author":"Richardson","year":"2020","journal-title":"PLoS Med."},{"key":"10.1016\/j.ajhg.2021.11.005_bib47","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/s41467-018-08008-w","article-title":"Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity","volume":"10","author":"Kilpel\u00e4inen","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2021.11.005_bib48","first-page":"1","article-title":"Connecting genetic risk to disease end points through the human blood plasma proteome","volume":"8","author":"Suhre","year":"2017","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2021.11.005_bib49","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1038\/s41588-018-0064-5","article-title":"A large electronic-health-record-based genome-wide study of serum lipids","volume":"50","author":"Hoffmann","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib50","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1038\/s41586-019-1310-4","article-title":"Genetic analyses of diverse populations improves discovery for complex traits","volume":"570","author":"Wojcik","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.11.005_bib51","doi-asserted-by":"crossref","first-page":"6417","DOI":"10.1038\/s41467-020-20086-3","article-title":"Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease","volume":"11","author":"Nielsen","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2021.11.005_bib52","doi-asserted-by":"crossref","first-page":"e1002383","DOI":"10.1371\/journal.pmed.1002383","article-title":"Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis","volume":"14","author":"Wheeler","year":"2017","journal-title":"PLoS Med."},{"key":"10.1016\/j.ajhg.2021.11.005_bib53","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1016\/j.cell.2019.10.004","article-title":"Uganda genome resource enables insights into population history and genomic discovery in africa","volume":"179","author":"Gurdasani","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2021.11.005_bib54","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1038\/s41598-018-37832-9","article-title":"The korea biobank array: design and identification of coding variants associated with blood biochemical traits","volume":"9","author":"Moon","year":"2019","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2021.11.005_bib55","doi-asserted-by":"crossref","first-page":"e0229374","DOI":"10.1371\/journal.pone.0229374","article-title":"A genome-wide association study on liver enzymes in korean population","volume":"15","author":"Seo","year":"2020","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2021.11.005_bib56","doi-asserted-by":"crossref","first-page":"3672","DOI":"10.1093\/hmg\/ddq281","article-title":"Genome-wide association of serum bilirubin levels in Korean population","volume":"19","author":"Kang","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib57","doi-asserted-by":"crossref","first-page":"1847","DOI":"10.1038\/s41467-019-09861-z","article-title":"Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis","volume":"10","author":"Graham","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2021.11.005_bib58","doi-asserted-by":"crossref","first-page":"4197","DOI":"10.1093\/hmg\/ddz243","article-title":"A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin-creatinine ratio","volume":"28","author":"Casanova","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib59","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1161\/HYPERTENSIONAHA.120.16547","article-title":"Urate, blood pressure, and cardiovascular disease: evidence from mendelian randomization and meta-analysis of clinical trials","volume":"77","author":"Gill","year":"2021","journal-title":"Hypertension"},{"key":"10.1016\/j.ajhg.2021.11.005_bib60","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1038\/ng.531","article-title":"Genome-wide association study of hematological and biochemical traits in a Japanese population","volume":"42","author":"Kamatani","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib61","first-page":"1","article-title":"1000 genomes-based meta-analysis identifies 10 novel loci for kidney function","volume":"7","author":"Gorski","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2021.11.005_bib62","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1016\/j.cell.2016.10.042","article-title":"The allelic landscape of human blood cell trait variation and links to common complex disease","volume":"167","author":"Astle","year":"2016","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2021.11.005_bib63","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-018-07691-z","article-title":"Genome-wide study of hair colour in uk biobank explains most of the snp heritability","volume":"9","author":"Morgan","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2021.11.005_bib64","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/s41467-018-08147-0","article-title":"A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia","volume":"10","author":"Adhikari","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2021.11.005_bib65","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1007\/s00439-015-1559-0","article-title":"Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up","volume":"134","author":"Liu","year":"2015","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib66","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1038\/s41588-018-0100-5","article-title":"Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability","volume":"50","author":"Hysi","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib67","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1186\/s12863-019-0765-5","article-title":"Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations","volume":"20","author":"Lona-Durazo","year":"2019","journal-title":"BMC Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib68","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1016\/j.cell.2020.08.008","article-title":"The polygenic and monogenic basis of blood traits and diseases","volume":"182","author":"Vuckovic","year":"2020","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2021.11.005_bib69","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/nature10659","article-title":"New gene functions in megakaryopoiesis and platelet formation","volume":"480","author":"Gieger","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.11.005_bib70","doi-asserted-by":"crossref","first-page":"e1006760","DOI":"10.1371\/journal.pgen.1006760","article-title":"Genome-wide association study of red blood cell traits in Hispanics\/Latinos: The Hispanic Community Health Study\/Study of Latinos","volume":"13","author":"Hodonsky","year":"2017","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib71","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1016\/j.cell.2020.06.045","article-title":"Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations","volume":"182","author":"Chen","year":"2020","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2021.11.005_bib72","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1186\/s12864-020-6626-9","article-title":"Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics","volume":"21","author":"Hodonsky","year":"2020","journal-title":"BMC Genomics"},{"key":"10.1016\/j.ajhg.2021.11.005_bib73","doi-asserted-by":"crossref","first-page":"29241","DOI":"10.1074\/jbc.R109.025544","article-title":"Glucose-6-phosphatase catalytic subunit gene family","volume":"284","author":"Hutton","year":"2009","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2021.11.005_bib74","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1002\/gepi.22248","article-title":"Meta-MultiSKAT: Multiple phenotype meta-analysis for region-based association test","volume":"43","author":"Dutta","year":"2019","journal-title":"Genet. Epidemiol."},{"key":"10.1016\/j.ajhg.2021.11.005_bib75","doi-asserted-by":"crossref","first-page":"2828","DOI":"10.1093\/bioinformatics\/btu367","article-title":"RAREMETAL: fast and powerful meta-analysis for rare variants","volume":"30","author":"Feng","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2021.11.005_bib76","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1038\/s41588-018-0184-y","article-title":"Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies","volume":"50","author":"Zhou","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib77","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1038\/s41588-021-00870-7","article-title":"Computationally efficient whole-genome regression for quantitative and binary traits","volume":"53","author":"Mbatchou","year":"2021","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.11.005_bib78","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1038\/ng.3190","article-title":"Efficient Bayesian mixed-model analysis increases association power in large cohorts","volume":"47","author":"Loh","year":"2015","journal-title":"Nat. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929721004171?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929721004171?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:21:03Z","timestamp":1762078863000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929721004171"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12]]},"references-count":78,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["S0002929721004171"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2021.11.005","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/257162","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2021,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Bayesian model comparison for rare-variant association studies","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2021.11.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}