Article

A deep catalog of protein-coding variation in 985,830 individuals

2023-05-10

Abstract excerpt

<h4>ABSTRACT</h4> Coding variants that have significant impact on function can provide insights into the biology of a gene but are typically rare in the population. Identifying and ascertaining the frequency of such rare variants requires very large sample sizes. Here, we present the largest catalog of human protein-coding variation to date, derived from exome sequencing of 985,830 individuals of diverse ancestry...

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Literature Corpus work: 507ab8d6-a4d9-5214-be12-6d96fdcc4c33
DOI: 10.1101/2023.05.09.539329

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