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Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Lebo MS, et al. Among authors: agatep r. Genet Med. 2018 Mar;20(3):294-302. doi: 10.1038/gim.2017.80. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726806 Free article.
CCMG practice guideline: laboratory guidelines for next-generation sequencing.
Hume S, Nelson TN, Speevak M, McCready E, Agatep R, Feilotter H, Parboosingh J, Stavropoulos DJ, Taylor S, Stockley TL; Canadian College of Medical Geneticists (CCMG). Hume S, et al. Among authors: agatep r. J Med Genet. 2019 Dec;56(12):792-800. doi: 10.1136/jmedgenet-2019-106152. Epub 2019 Jul 12. J Med Genet. 2019. PMID: 31300550 Free PMC article.
Isolated sulfite oxidase deficiency: a founder mutation.
Mhanni AA, Greenberg CR, Spriggs EL, Agatep R, Sisk RR, Prasad C. Mhanni AA, et al. Among authors: agatep r. Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005900. doi: 10.1101/mcs.a005900. Print 2020 Dec. Cold Spring Harb Mol Case Stud. 2020. PMID: 33335014 Free PMC article.
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: agatep r. 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.
15 results