Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S, Hume S, Agatep R, Spriggs E, Feilotter HE, Semenuk L, Wong H, Lazo de la Vega L, Marshall CR, Axford MM, Silver T, Charames GS, Di Gioacchino V, Watkins N, Foulkes WD, Clavier M, Hamel N, Chong G, Lamont RE, Parboosingh J, Karsan A, Bosdet I, Young SS, Tucker T, Akbari MR, Speevak MD, Vaags AK, Lebo MS, Lerner-Ellis J; Canadian Open Genetics Repository Working Group.
Mighton C, et al. Among authors: spriggs e.
J Med Genet. 2022 Jun;59(6):571-578. doi: 10.1136/jmedgenet-2021-107738. Epub 2021 Apr 19.
J Med Genet. 2022.
PMID: 33875564
Free PMC article.