RT Journal Article
SR Electronic
T1 TiSAn: tissue specific variant annotation
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 141408
DO 10.1101/141408
A1 Kévin Vervier
A1 Jacob J Michaelson
YR 2017
UL http://biorxiv.org/content/early/2017/06/26/141408.abstract
AB The impact of genetic variation on molecular functions, such as gene expression, varies across tissues and cell types, complicating the interpretation of genetic variants. We introduce a functional Tissue-Specific Annotation (TiSAn) tool that predicts how related a genomic position is to a given tissue (http://github.com/kevinVervier/TiSAn). We demonstrate the accuracy and versatility of TiSAn by introducing predictive models for human heart and human brain, and detecting tissue-relevant variations in large cohorts for autism spectrum disorder and coronary artery disease.