Article

Rare variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations

2018-02-27

Abstract excerpt

Many G protein-coupled receptors (GPCRs) lack common variants that lead to reproducible genome-wide disease associations. Here we used rare variant approaches to assess the disease associations of 85 orphan or understudied GPCRs in an unselected cohort of 51,289 individuals. Rare loss-of-function variants, missense variants predicted to be pathogenic or likely pathogenic, and a subset of rare synonymous variants w...

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Literature Corpus work: a3a6a4d3-a50a-55e6-a80a-5147094cd525
DOI: 10.1101/272955

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