Article

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

2022-03-21

Abstract excerpt

The depletion of disruptive variation caused by purifying natural selection (constraint) has been widely used to investigate protein-coding genes underlying human disorders, but attempts to assess constraint for non-protein-coding regions have proven more difficult. Here we aggregate, process, and release a dataset of 76,156 human genomes from the Genome Aggregation Database (gnomAD), the largest public open-acces...

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Literature Corpus work: 32f97e7d-b5d3-5477-b561-11c770090e42
DOI: 10.1101/2022.03.20.485034

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