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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: karsan a. 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.
A clinically validated diagnostic second-generation sequencing assay for detection of hereditary BRCA1 and BRCA2 mutations.
Bosdet IE, Docking TR, Butterfield YS, Mungall AJ, Zeng T, Coope RJ, Yorida E, Chow K, Bala M, Young SS, Hirst M, Birol I, Moore RA, Jones SJ, Marra MA, Holt R, Karsan A. Bosdet IE, et al. Among authors: karsan a. J Mol Diagn. 2013 Nov;15(6):796-809. doi: 10.1016/j.jmoldx.2013.07.004. Epub 2013 Oct 4. J Mol Diagn. 2013. PMID: 24094589 Free article.
Canadian anaplastic lymphoma kinase study: a model for multicenter standardization and optimization of ALK testing in lung cancer.
Cutz JC, Craddock KJ, Torlakovic E, Brandao G, Carter RF, Bigras G, Deschenes J, Izevbaye I, Xu Z, Greer W, Yatabe Y, Ionescu D, Karsan A, Jung S, Fraser RS, Blumenkrantz M, Lavoie J, Fortin F, Bojarski A, Côté GB, van den Berghe JA, Rashid-Kolvear F, Trotter M, Sekhon HS, Albadine R, Tran-Thanh D, Gorska I, Knoll JH, Xu J, Blencowe B, Iafrate AJ, Hwang DM, Pintilie M, Gaspo R, Couture C, Tsao MS. Cutz JC, et al. Among authors: karsan a. J Thorac Oncol. 2014 Sep;9(9):1255-63. doi: 10.1097/JTO.0000000000000239. J Thorac Oncol. 2014. PMID: 25122422 Free article. Clinical Trial.
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: karsan a. 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.
Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
Thibodeau ML, O'Neill K, Dixon K, Reisle C, Mungall KL, Krzywinski M, Shen Y, Lim HJ, Cheng D, Tse K, Wong T, Chuah E, Fok A, Sun S, Renouf D, Schaeffer DF, Cremin C, Chia S, Young S, Pandoh P, Pleasance S, Pleasance E, Mungall AJ, Moore R, Yip S, Karsan A, Laskin J, Marra MA, Schrader KA, Jones SJM. Thibodeau ML, et al. Among authors: karsan a. Genet Med. 2020 Nov;22(11):1892-1897. doi: 10.1038/s41436-020-0880-8. Epub 2020 Jul 6. Genet Med. 2020. PMID: 32624572 Free PMC article.
Assessing Limit of Detection in Clinical Sequencing.
Starks ER, Swanson L, Docking TR, Bosdet I, Munro S, Moore RA, Karsan A. Starks ER, et al. Among authors: karsan a. J Mol Diagn. 2021 Apr;23(4):455-466. doi: 10.1016/j.jmoldx.2020.12.010. Epub 2021 Jan 22. J Mol Diagn. 2021. PMID: 33486075 Free article.
222 results