paperKB
coga / coga-kb
Help
Sign in

Chunk #2 — Introduction

Source
Tissue-specific genetic control of splicing: implications for the study of complex traits.
Embedded
yes

Text

Here we extend the previous body of work by studying the genetic control of both exon-level and whole-transcript level variation in expression in two primary cell types, including peripheral blood mononucleated cells (PBMCs) and cortical brain tissue from a set of control individuals, combined with parallel genome-wide genotyping of these samples. The implementation of identical genome-wide screens in two primary tissue types has allowed us to identify polymorphisms with clear effects on both overall expression and splicing, and to show that these effects are often tissue specific. We have also established an easy-to-use database that allows users to assess whether a given polymorphism is associated with any local changes in expression and have shown that these data suggest possible underlying causes of several published disease associations.