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Page 1
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, O'Donnell-Luria A, Harrison SM, Tavtigian SV, Greenblatt MS, Biesecker LG, Radivojac P, Brenner SE; ClinGen Sequence Variant Interpretation Working Group. Pejaver V, et al. Among authors: pagel ka. Am J Hum Genet. 2022 Dec 1;109(12):2163-2177. doi: 10.1016/j.ajhg.2022.10.013. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413997 Free PMC article.
Integrated Informatics Analysis of Cancer-Related Variants.
Pagel KA, Kim R, Moad K, Busby B, Zheng L, Tokheim C, Ryan M, Karchin R. Pagel KA, et al. JCO Clin Cancer Inform. 2020 Mar;4:310-317. doi: 10.1200/CCI.19.00132. JCO Clin Cancer Inform. 2020. PMID: 32228266 Free PMC article.
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Cline MS, Babbi G, Bonache S, Cao Y, Casadio R, de la Cruz X, Díez O, Gutiérrez-Enríquez S, Katsonis P, Lai C, Lichtarge O, Martelli PL, Mishne G, Moles-Fernández A, Montalban G, Mooney SD, O'Conner R, Ootes L, Özkan S, Padilla N, Pagel KA, Pejaver V, Radivojac P, Riera C, Savojardo C, Shen Y, Sun Y, Topper S, Parsons MT, Spurdle AB, Goldgar DE; ENIGMA Consortium. Cline MS, et al. Among authors: pagel ka. Hum Mutat. 2019 Sep;40(9):1546-1556. doi: 10.1002/humu.23861. Epub 2019 Aug 23. Hum Mutat. 2019. PMID: 31294896 Free PMC article.
High-Throughput Prediction of MHC Class I and II Neoantigens with MHCnuggets.
Shao XM, Bhattacharya R, Huang J, Sivakumar IKA, Tokheim C, Zheng L, Hirsch D, Kaminow B, Omdahl A, Bonsack M, Riemer AB, Velculescu VE, Anagnostou V, Pagel KA, Karchin R. Shao XM, et al. Among authors: pagel ka. Cancer Immunol Res. 2020 Mar;8(3):396-408. doi: 10.1158/2326-6066.CIR-19-0464. Epub 2019 Dec 23. Cancer Immunol Res. 2020. PMID: 31871119 Free PMC article.
Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
McInnes G, Daneshjou R, Katsonis P, Lichtarge O, Srinivasan R, Rana S, Radivojac P, Mooney SD, Pagel KA, Stamboulian M, Jiang Y, Capriotti E, Wang Y, Bromberg Y, Bovo S, Savojardo C, Martelli PL, Casadio R, Pal LR, Moult J, Brenner SE, Altman R. McInnes G, et al. Among authors: pagel ka. Hum Mutat. 2019 Sep;40(9):1314-1320. doi: 10.1002/humu.23825. Epub 2019 Jun 24. Hum Mutat. 2019. PMID: 31140652 Free PMC article.
13 results