Journal article
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
Abstract
PurposeThe purpose of this study was to develop a national program for Canadian diagnostic laboratories to compare DNA-variant interpretations and resolve discordant-variant classifications using the BRCA1 and BRCA2 genes as a case study.MethodsBRCA1 and BRCA2 variant data were uploaded and shared through the Canadian Open Genetics Repository (COGR; http://www.opengenetics.ca). A total of 5,554 variant observations were submitted; …
Authors
Lebo MS; Zakoor K-R; Chun K; Speevak MD; Waye JS; McCready E; Parboosingh JS; Lamont RE; Feilotter H; Bosdet I
Journal
Genetics in Medicine, Vol. 20, No. 3, pp. 294–302
Publisher
Elsevier
Publication Date
3 2018
DOI
10.1038/gim.2017.80
ISSN
1098-3600