Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis [Genetics]
Computational analyses of human patient exomes aim to filter out as many nonpathogenic genetic variants (NPVs) as possible, without removing the true disease-causing mutations. This involves comparing the patient’s exome with public databases to remove reported variants inconsistent with disease prevalence, mode of inheritance, or clinical penetrance. However, variants frequent...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Patrick Maffucci, Benedetta Bigio, Franck Rapaport, Aurelie Cobat, Alessandro Borghesi, Marie Lopez, Etienne Patin, Alexandre Bolze, Lei Shang, Matthieu Bendavid, Eric M. Scott, Peter D. Stenson, Charlotte Cunningham–Rundles, David N. Cooper, Joseph Tags: PNAS Plus Source Type: research