Measures of general deleteriousness, like CADD or PolyPhen, have become indispensable tools in the interpretation of genetic variants. However, these estimates say little about where in the organism these deleterious effects will be most apparent. An additional, complementary measure is needed to link deleterious variants (as determined by e.g., CADD) to tissues in which their effect will be most meaningful. Here, we introduce TiSAn (Tissue Specific Annotation), a tool that predicts how related a genomic position is to a given tissue (http://github.com/kevinVervier/TiSAn). TiSAn uses machine learning on genome-scale, tissue-specific data to discriminate variants relevant to a tissue from those having no bearing on the development or function of that tissue. Predictions are made genome-wide, and these scores can then be used to contextualize and filter variants of interest in whole genome sequencing or genome w...

TiSAn: Estimating Tissue Specific Effects of Coding and Non-coding Variants

10.1101/141408