Additional file 3: Table S3. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
Published in 2017 by
K. van der Velde,
Eddy de Boer,
Cleo van Diemen,
Birgit Sikkema-Raddatz,
Kristin Abbott,
Alain Knopperts,
Lude Franke,
Rolf Sijmons,
Tom de Koning,
Cisca Wijmenga,
Richard Sinke,
Morris Swertz
Abstract
Estimate of the practical impact in clinical diagnostics of using methods of different sensitivity and specificity on a dataset with 100 benign and 10 pathogenic variants. (XLSX 50 kb)