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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: stockley tl. 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.
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model.
Mavaddat N, Ficorella L, Carver T, Lee A, Cunningham AP, Lush M, Dennis J, Tischkowitz M, Downes K, Hu D, Hahnen E, Schmutzler RK, Stockley TL, Downs GS, Zhang T, Chiarelli AM, Bojesen SE, Liu C, Chung WK, Pardo M, Feliubadaló L, Balmaña J, Simard J, Antoniou AC, Easton DF. Mavaddat N, et al. Among authors: stockley tl. Cancer Epidemiol Biomarkers Prev. 2023 Mar 6;32(3):422-427. doi: 10.1158/1055-9965.EPI-22-0756. Cancer Epidemiol Biomarkers Prev. 2023. PMID: 36649146 Free PMC article.
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T, Taylor S, van Karnebeek C, Zawati MH, Lauzon J, Armour CM; Canadian College of Medical Geneticists. Boycott K, et al. J Med Genet. 2015 Jul;52(7):431-7. doi: 10.1136/jmedgenet-2015-103144. Epub 2015 May 7. J Med Genet. 2015. PMID: 25951830 Free PMC article.
Integration of Technical, Bioinformatic, and Variant Assessment Approaches in the Validation of a Targeted Next-Generation Sequencing Panel for Myeloid Malignancies.
Thomas M, Sukhai MA, Zhang T, Dolatshahi R, Harbi D, Garg S, Misyura M, Pugh T, Stockley TL, Kamel-Reid S. Thomas M, et al. Among authors: stockley tl. Arch Pathol Lab Med. 2017 Jun;141(6):759-775. doi: 10.5858/arpa.2016-0547-RA. Epub 2017 Mar 9. Arch Pathol Lab Med. 2017. PMID: 28557600 Free article.
Improving validation methods for molecular diagnostics: application of Bland-Altman, Deming and simple linear regression analyses in assay comparison and evaluation for next-generation sequencing.
Misyura M, Sukhai MA, Kulasignam V, Zhang T, Kamel-Reid S, Stockley TL. Misyura M, et al. Among authors: stockley tl. J Clin Pathol. 2018 Feb;71(2):117-124. doi: 10.1136/jclinpath-2017-204520. Epub 2017 Jul 26. J Clin Pathol. 2018. PMID: 28747393 Free PMC article.
131 results