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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: bosdet i. 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.
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: bosdet i. 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.
Defining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing.
Dixon K, Shen Y, O'Neill K, Mungall KL, Chan S, Bilobram S, Zhang W, Bezeau M, Sharma A, Fok A, Mungall AJ, Moore R, Bosdet I, Thibodeau ML, Sun S, Yip S, Schrader KA, Jones SJM. Dixon K, et al. Among authors: bosdet i. Eur J Hum Genet. 2023 May;31(5):602-606. doi: 10.1038/s41431-023-01284-1. Epub 2023 Feb 16. Eur J Hum Genet. 2023. PMID: 36797466 Free PMC article.
Integrating Tumor Sequencing Into Clinical Practice for Patients With Mismatch Repair-Deficient Lynch Syndrome Spectrum Cancers.
Dixon K, Asrat MJ, Bedard AC, Binnington K, Compton K, Cremin C, Heidary N, Lohn Z, Lovick N, McCullum M, Mindlin A, O'Loughlin M, Petersen T, Portigal-Todd C, Scott J, St-Martin G, Thompson J, Turnbull R, Mung SW, Hong Q, Bezeau M, Bosdet I, Tucker T, Young S, Yip S, Aubertin G, Blood KA, Nuk J, Sun S, Schrader KA. Dixon K, et al. Among authors: bosdet i. Clin Transl Gastroenterol. 2021 Aug 16;12(8):e00397. doi: 10.14309/ctg.0000000000000397. Clin Transl Gastroenterol. 2021. PMID: 34397043 Free PMC article.
Use of Treatment-Focused Tumor Sequencing to Screen for Germline Cancer Predisposition.
Lau TTY, May CM, Sefid Dashti ZJ, Swanson L, Starks ER, Parker JDK, Moore RA, Tucker T, Bosdet I, Young SS, Santos JL, Compton K, Heidary N, Hoang L, Schrader KA, Sun S, Kwon JS, Tinker AV, Karsan A. Lau TTY, et al. Among authors: bosdet i. J Mol Diagn. 2021 Sep;23(9):1145-1158. doi: 10.1016/j.jmoldx.2021.06.006. Epub 2021 Jun 29. J Mol Diagn. 2021. PMID: 34197922 Free 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: bosdet i. 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.
33 results