PT  - JOURNAL ARTICLE
AU  - Kévin Vervier
AU  - Jacob J Michaelson
TI  - TiSAn: tissue specific variant annotation
AID  - 10.1101/141408
DP  - 2017 Jan 01
TA  - bioRxiv
PG  - 141408
4099  - http://biorxiv.org/content/early/2017/05/24/141408.short
4100  - http://biorxiv.org/content/early/2017/05/24/141408.full
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.