Article

Hidden protein-altering variants influence diverse human phenotypes

2023-06-09

Abstract excerpt

Structural variants (SVs) comprise the largest genetic variants, altering from 50 base pairs to megabases of DNA. However, SVs have not been effectively ascertained in most genetic association studies, leaving a key gap in our understanding of human complex trait genetics. We ascertained protein-altering SVs from UK Biobank whole-exome sequencing data ( n =468,570) using haplotype-informed methods capable of dete...

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Literature Corpus work: baaa1fa8-ff4d-5df1-8a82-c90ec90562f6
DOI: 10.1101/2023.06.07.544066

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