{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wainschtein P"],"funding":["Department of Education and Training | Australian Research Council","Westlake Education Foundation","NIA NIH HHS","NIDDK NIH HHS","NHLBI NIH HHS","NIMH NIH HHS","Sylvia and Charles Viertel Charitable Foundation","Department of Health | National Health and Medical Research Council","U.S. Department of Health & Human Services | National Institutes of Health"],"pagination":["263-273"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9119698"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["54(3)"],"pubmed_abstract":["Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately one-third to two-thirds of heritability is captured by common SNPs. However, it is not known whether the remaining heritability is due to the imperfect tagging of causal variants by common SNPs, in particular whether the causal variants are rare, or whether it is overestimated due to bias in inference from pedigree data. Here we estimated heritability for height and body mass index (BMI) from whole-genome sequence data on 25,465 unrelated individuals of European ancestry. The estimated heritability was 0.68 (standard error 0.10) for height and 0.30 (standard error 0.10) for body mass index. Low minor allele frequency variants in low linkage disequilib"],"journal":["Nature genetics"],"pubmed_title":["Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data."],"pmcid":["PMC9119698"],"funding_grant_id":["U01 HL080295","FL180100072","1113400","HHSN268200800007C","1078037","R01 HL059367","R35 HL135818","N01HC85081","DP160102400","K08 HL141601","R01 DK124097","R01 AG023629","HHSN268201800001C","N01HC85080","DE200100425","HHSN268201200036C","R01MH100141","N01HC85079","R01 DK110113","R01 MH100141","U01 HL130114"],"pubmed_authors":["Ekunwe L","TOPMed Anthropometry Working Group","Bowden DW","Manning A","Glahn D","Salzberg S","Sylvia J","Sandow K","Nekhai S","Reupena MS","Walker T","Xu H","Chaffin M","Russell P","Gass M","Chung RH","Farek J","Levy D","McKnight B","Preuss M","Hwu CM","Peyser P","Tishkoff S","Carrier J","Chuang LM","Reed R","Avramopoulos D","Barr RG","Cornell E","Sotoodehnia N","Curran J","Yu K","Qi Q","May S","Mathai 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data.","description":"Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately one-third to two-thirds of heritability is captured by common SNPs. However, it is not known whether the remaining heritability is due to the imperfect tagging of causal variants by common SNPs, in particular whether the causal variants are rare, or whether it is overestimated due to bias in inference from pedigree data. Here we estimated heritability for height and body mass index (BMI) from whole-genome sequence data on 25,465 unrelated individuals of European ancestry. The estimated heritability was 0.68 (standard error 0.10) for height and 0.30 (standard error 0.10) for body mass index. Low minor allele frequency variants in low linkage disequilib","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2025-04-05T16:07:11.216Z","creation":"2025-02-18T23:49:01.059Z"},"accession":"S-EPMC9119698","cross_references":{"pubmed":["35256806"],"doi":["10.1038/s41588-021-00997-7"]}}