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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, Eccles D, Tischkowitz M, Tatton-Brown K, Snape K, McVeigh T, Izatt L, Woodward ER, Burnichon N, Gimenez-Roqueplo AP, Mazzarotto F, Whiffin N, Ware J, Hanson H, Pesaran T, LaDuca H, Buffet A, Maher ER, Turnbull C; Cancer Variant Interpretation Group UK (CanVIG-UK). Garrett A, et al. Among authors: choi s. Genet Med. 2022 Jan;24(1):41-50. doi: 10.1016/j.gim.2021.08.004. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906457 Free PMC article.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Among authors: choi s. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).
Loong L, Garrett A, Allen S, Choi S, Durkie M, Callaway A, Drummond J, Burghel GJ, Robinson R, Torr B, Berry IR, Wallace AJ, Eccles DM, Ellard S, Baple E, Evans DG, Woodward ER, Kulkarni A, Lalloo F, Tischkowitz M, Lucassen A, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Among authors: choi s. Genet Med. 2022 Sep;24(9):1867-1877. doi: 10.1016/j.gim.2022.05.002. Epub 2022 Jun 3. Genet Med. 2022. PMID: 35657381 Free article.
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.
Cubuk C, Garrett A, Choi S, King L, Loveday C, Torr B, Burghel GJ, Durkie M, Callaway A, Robinson R, Drummond J, Berry I, Wallace A, Eccles D, Tischkowitz M, Whiffin N, Ware JS, Hanson H, Turnbull C, CanVIG-Uk. Cubuk C, et al. Among authors: choi s. Genet Med. 2021 Nov;23(11):2096-2104. doi: 10.1038/s41436-021-01265-z. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230640 Free PMC article.
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.
Torr B, Jones C, Choi S, Allen S, Kavanaugh G, Hamill M, Garrett A, MacMahon S, Loong L, Reay A, Yuan L, Valganon Petrizan M, Monson K, Perry N, Fallowfield L, Jenkins V, Gold R, Taylor A, Gabe R, Wiggins J, Lucassen A, Manchanda R, Gandhi A, George A, Hubank M, Kemp Z, Evans DG, Bremner S, Turnbull C. Torr B, et al. Among authors: choi s. J Med Genet. 2022 Dec;59(12):1179-1188. doi: 10.1136/jmg-2022-108655. Epub 2022 Jul 22. J Med Genet. 2022. PMID: 35868849 Free PMC article. Clinical Trial.
Immunogenomics of Colorectal Cancer Response to Checkpoint Blockade: Analysis of the KEYNOTE 177 Trial and Validation Cohorts.
Bortolomeazzi M, Keddar MR, Montorsi L, Acha-Sagredo A, Benedetti L, Temelkovski D, Choi S, Petrov N, Todd K, Wai P, Kohl J, Denner T, Nye E, Goldstone R, Ward S, Wilson GA, Al Bakir M, Swanton C, John S, Miles J, Larijani B, Kunene V, Fontana E, Arkenau HT, Parker PJ, Rodriguez-Justo M, Shiu KK, Spencer J, Ciccarelli FD. Bortolomeazzi M, et al. Among authors: choi s. Gastroenterology. 2021 Oct;161(4):1179-1193. doi: 10.1053/j.gastro.2021.06.064. Epub 2021 Jun 29. Gastroenterology. 2021. PMID: 34197832 Free PMC article.
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