Alternative Splicing QTLs in European and African Populations

With the advent of RNA-sequencing technology, we can detect different types of alternative splicing and determine how DNA variation regulates splicing. However, given the short read lengths used in most population-based RNA-sequencing experiments, quantifying transcripts accurately remains a challenge. Here we present a method, Altrans, for discovery of alternative splicing quantitative trait loci (asQTLs). To assess the performance of Altrans, we compared it to Cufflinks and MISO in simulations and Cufflinks for asQTL discovery.

Source: The American Journal of Human Genetics - October 1, 2015 Category: Genetics & Stem Cells Authors: Halit Ongen, Emmanouil T. Dermitzakis Tags: Article Source Type: research