Article
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.
Proceedings of the National Academy of Sciences of the United States of America - 15 Jan 2019
Maffucci Patrick, Bigio Benedetta, Rapaport Franck, Cobat Aurélie, Borghesi Alessandro, Lopez Marie, Patin Etienne, Bolze Alexandre, Shang Lei, Bendavid Matthieu, Scott Eric M, Stenson Peter D, Cunningham-Rundles Charlotte, Cooper David N, Gleeson Joseph G, Fellay Jacques, Quintana-Murci Lluis, Casanova Jean-Laurent, Abel Laurent, Boisson Bertrand, Itan Yuval
Abstract excerpt
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 in a given exome cohort, but absent...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.