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Genome-wide rare variant analysis for thousands of phenotypes in 54,000 exomes

2019-07-04

Abstract excerpt

Defining the effects that rare variants can have on human phenotypes is essential to advancing our understanding of human health and disease. Large-scale human genetic analyses have thus far focused on common variants, but the development of large cohorts of deeply phenotyped individuals with exome sequence data has now made comprehensive analyses of rare variants possible. We analyzed the effects of rare (MAF<0.1...

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Literature Corpus work: f60d0e8a-76c5-51a5-b048-3bcd4164de6d
DOI: 10.1101/692368

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