Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

doi:10.1038/gim.2017.80

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Article

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2018

Lebo Matthew S, Zakoor Kathleen-Rose, Chun Kathy, Speevak Marsha D, Waye John S, McCready Elizabeth, Parboosingh Jillian S, Lamont Ryan E, Feilotter Harriet, Bosdet Ian, Tucker Tracy, Young Sean, Karsan Aly, Charames George S, Agatep Ronald, Spriggs Elizabeth L, Chisholm Caitlin, Vasli Nasim, Daoud Hussein, Jarinova Olga, Tomaszewski Robert, Hume Stacey, Taylor Sherryl, Akbari Mohammad R, Lerner-Ellis Jordan

Abstract excerpt

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...

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PMID: 28726806
DOI: 10.1038/gim.2017.80

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BRCA2
BRCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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