Rare variants regulate expression of nearby individual genes in multiple tissues.

ABSTRACT: The rapid decrease in sequencing cost has enabled genetic studies to discover rare variants associated with complex diseases and traits. Once this association is identified, the next step is to understand the genetic mechanism of rare variants on how the variants influence diseases. Similar to the hypothesis of common variants, rare variants may affect diseases by regulating gene expression, and recently, several studies have identified the effects of rare variants on gene expression using heritability and expression outlier analyses. However, identifying individual genes whose expression is regulated by rare variants has been challenging due to the relatively small sample size of expression quantitative trait loci studies and statistical approaches not optimized to detect the effects of r

SUBMITTER: Li J 

PROVIDER: S-EPMC8195400 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature