Allelic expression of deleterious protein-coding variants across human tissues.

ABSTRACT: Personal exome and genome sequencing provides access to loss-of-function and rare deleterious alleles whose interpretation is expected to provide insight into individual disease burden. However, for each allele, accurate interpretation of its effect will depend on both its penetrance and the trait's expressivity. In this regard, an important factor that can modify the effect of a pathogenic coding allele is its level of expression; a factor which itself characteristically changes across tissues. To better inform the degree to which pathogenic alleles can be modified by expression level across multiple tissues, we have conducted exome, RNA and deep, targeted allele-specific expression (ASE) sequencing in ten tissues obtained from a single individual. By combining such data, we report the im

SUBMITTER: Kukurba KR 

PROVIDER: S-EPMC4006732 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature