Abstract
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.
Copyright
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