Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

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. ORCID: https://orcid.org/0000-0002-8943-8484, Gleeson, Joseph G., Fellay, Jacques, Quintana-Murci, Lluis, Casanova, Jean-Laurent, Abel, Laurent, Boisson, Bertrand and Itan, Yuval 2019. Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis. Proceedings of the National Academy of Sciences 116 , pp. 950-959. 10.1073/pnas.1808403116

[thumbnail of Blacklisting 1808403116.full.pdf]
Preview
PDF - Published Version
Download (2MB) | Preview
Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: National Academy of Sciences
ISSN: 0027-8424
Date of First Compliant Deposit: 10 January 2019
Date of Acceptance: 27 December 2018
Last Modified: 22 Apr 2024 18:40
URI: https://orca.cardiff.ac.uk/id/eprint/118282

Citation Data

Cited 42 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item

Downloads

Downloads per month over past year

View more statistics