Genotype-based test in mapping cis-regulatory variants from allele-specific expression data.

ABSTRACT: Identifying and understanding the impact of gene regulatory variation is of considerable importance in evolutionary and medical genetics; such variants are thought to be responsible for human-specific adaptation and to have an important role in genetic disease. Regulatory variation in cis is readily detected in individuals showing uneven expression of a transcript from its two allelic copies, an observation referred to as allelic imbalance (AI). Identifying individuals exhibiting AI allows mapping of regulatory DNA regions and the potential to identify the underlying causal genetic variant(s). However, existing mapping methods require knowledge of the haplotypes, which make them sensitive to phasing errors. In this study, we introduce a genotype-based mapping test that does not require hap

SUBMITTER: Lefebvre JF 

PROVIDER: S-EPMC3369843 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature