Article

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

2017-06-09

Abstract excerpt

There is a limited understanding about the impact of rare protein truncating variants across multiple phenotypes. We explore the impact of this class of variants on 13 quantitative traits and 10 diseases using whole-exome sequencing data from 100,296 individuals. Protein truncating variants in genes intolerant to this class of mutations increased risk of autism, schizophrenia, bipolar disorder, intellectual disabi...

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Literature Corpus work: 7b336b28-3393-5d06-8bb5-6901cbd3a190
DOI: 10.1101/148247

Open publication

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