Protein-coding repeat polymorphisms strongly shape diverse human phenotypes.
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ABSTRACT:
SUBMITTER: Mukamel RE
PROVIDER: S-EPMC8549062 | biostudies-literature | 2021 Sep
REPOSITORIES: biostudies-literature
Publications
Protein-coding repeat polymorphisms strongly shape diverse human phenotypes.
Mukamel Ronen E RE Handsaker Robert E RE Sherman Maxwell A MA Barton Alison R AR Zheng Yiming Y McCarroll Steven A SA Loh Po-Ru PR
Science (New York, N.Y.) 20210923 6562
Many human proteins contain domains that vary in size or copy number because of variable numbers of tandem repeats (VNTRs) in protein-coding exons. However, the relationships of VNTRs to most phenotypes are unknown because of difficulties in measuring such repetitive elements. We developed methods to estimate VNTR lengths from whole-exome sequencing data and impute VNTR alleles into single-nucleotide polymorphism haplotypes. Analyzing 118 protein-altering VNTRs in 415,280 UK Biobank participants ...[more]
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