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Whole-exome sequencing combined with functional genomics reveals novel candidate driver cancer genes in endometrial cancer.
Liang H, Cheung LW, Li J, Ju Z, Yu S, Stemke-Hale K, Dogruluk T, Lu Y, Liu X, Gu C, Guo W, Scherer SE, Carter H, Westin SN, Dyer MD, Verhaak RG, Zhang F, Karchin R, Liu CG, Lu KH, Broaddus RR, Scott KL, Hennessy BT, Mills GB. Liang H, et al. Among authors: karchin r. Genome Res. 2012 Nov;22(11):2120-9. doi: 10.1101/gr.137596.112. Epub 2012 Oct 1. Genome Res. 2012. PMID: 23028188 Free PMC article.
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: karchin r. 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.
Accumulation of driver and passenger mutations during tumor progression.
Bozic I, Antal T, Ohtsuki H, Carter H, Kim D, Chen S, Karchin R, Kinzler KW, Vogelstein B, Nowak MA. Bozic I, et al. Among authors: karchin r. Proc Natl Acad Sci U S A. 2010 Oct 26;107(43):18545-50. doi: 10.1073/pnas.1010978107. Epub 2010 Sep 27. Proc Natl Acad Sci U S A. 2010. PMID: 20876136 Free PMC article.
Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways.
Wu J, Jiao Y, Dal Molin M, Maitra A, de Wilde RF, Wood LD, Eshleman JR, Goggins MG, Wolfgang CL, Canto MI, Schulick RD, Edil BH, Choti MA, Adsay V, Klimstra DS, Offerhaus GJ, Klein AP, Kopelovich L, Carter H, Karchin R, Allen PJ, Schmidt CM, Naito Y, Diaz LA Jr, Kinzler KW, Papadopoulos N, Hruban RH, Vogelstein B. Wu J, et al. Among authors: karchin r. Proc Natl Acad Sci U S A. 2011 Dec 27;108(52):21188-93. doi: 10.1073/pnas.1118046108. Epub 2011 Dec 8. Proc Natl Acad Sci U S A. 2011. PMID: 22158988 Free PMC article.
CRAVAT: cancer-related analysis of variants toolkit.
Douville C, Carter H, Kim R, Niknafs N, Diekhans M, Stenson PD, Cooper DN, Ryan M, Karchin R. Douville C, et al. Among authors: karchin r. Bioinformatics. 2013 Mar 1;29(5):647-8. doi: 10.1093/bioinformatics/btt017. Epub 2013 Jan 16. Bioinformatics. 2013. PMID: 23325621 Free PMC article.
A hybrid likelihood model for sequence-based disease association studies.
Chen YC, Carter H, Parla J, Kramer M, Goes FS, Pirooznia M, Zandi PP, McCombie WR, Potash JB, Karchin R. Chen YC, et al. Among authors: karchin r. PLoS Genet. 2013;9(1):e1003224. doi: 10.1371/journal.pgen.1003224. Epub 2013 Jan 24. PLoS Genet. 2013. PMID: 23358228 Free PMC article.
141 results