Article
GAVIN: Gene-Aware Variant INterpretation for medical sequencing.
Genome biology - 16 Jan 2017
van der Velde K Joeri, de Boer Eddy N, van Diemen Cleo C, Sikkema-Raddatz Birgit, Abbott Kristin M, Knopperts Alain, Franke Lude, Sijmons Rolf H, de Koning Tom J, Wijmenga Cisca, Sinke Richard J, Swertz Morris A
Abstract excerpt
We present Gene-Aware Variant INterpretation (GAVIN), a new method that accurately classifies variants for clinical diagnostic purposes. Classifications are based on gene-specific calibrations of allele frequencies from the ExAC database, likely variant impact using SnpEff, and estimated deleteriousness based on CADD scores for >3000 genes. In a benchmark on 18 clinical gene sets, we achieve a sensitivity of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.