Article

Modified penetrance of coding variants by <i>cis</i> -regulatory variation shapes human traits

2017-09-18

Abstract excerpt

<h4>Summary</h4> Coding variants represent many of the strongest associations between genotype and phenotype, however they exhibit inter-individual differences in effect, known as variable penetrance. In this work, we study how cis -regulatory variation modifies the penetrance of coding variants in their target gene. Using functional genomic and genetic data from GTEx, we observed that in the general population,...

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Identifiers and source

Literature Corpus work: 7a677467-5611-5b77-92ae-a50e28bb5656
DOI: 10.1101/190397

Open publication

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