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Article

Protein-coding repeat polymorphisms strongly shape diverse human phenotypes.

Science (New York, N.Y.) - 24 Sept 2021

Mukamel Ronen E, Handsaker Robert E, Sherman Maxwell A, Barton Alison R, Zheng Yiming, McCarroll Steven A, Loh Po-Ru

Abstract excerpt

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...

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Identifiers

PMID: 34554798
DOI: 10.1126/science.abg8289
PMCID: PMC8549062

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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