GAVIN - Gene-Aware Variant INterpretation for medical sequencing
K. Joeri van der Velde, Eddy N de Boer, Cleo van Diemen, Birgit Sikkema-Raddatz, Kristin Abbott, Alain Knopperts, Lude Franke, Rolf Sijmons, Tom J de Koning, Cisca Wijmenga, Richard Sinke, Morris Swertz
GAVIN classifies variants with high sensitivity and specificity using gene-specific calibrations, outperforming 12 other tools in a clinical benchmark.
bioRxiv · Aug 30, 2016Bioinformatics