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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: 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.
A combination of molecular markers and clinical features improve the classification of pancreatic cysts.
Springer S, Wang Y, Dal Molin M, Masica DL, Jiao Y, Kinde I, Blackford A, Raman SP, Wolfgang CL, Tomita T, Niknafs N, Douville C, Ptak J, Dobbyn L, Allen PJ, Klimstra DS, Schattner MA, Schmidt CM, Yip-Schneider M, Cummings OW, Brand RE, Zeh HJ, Singhi AD, Scarpa A, Salvia R, Malleo G, Zamboni G, Falconi M, Jang JY, Kim SW, Kwon W, Hong SM, Song KB, Kim SC, Swan N, Murphy J, Geoghegan J, Brugge W, Fernandez-Del Castillo C, Mino-Kenudson M, Schulick R, Edil BH, Adsay V, Paulino J, van Hooft J, Yachida S, Nara S, Hiraoka N, Yamao K, Hijioka S, van der Merwe S, Goggins M, Canto MI, Ahuja N, Hirose K, Makary M, Weiss MJ, Cameron J, Pittman M, Eshleman JR, Diaz LA Jr, Papadopoulos N, Kinzler KW, Karchin R, Hruban RH, Vogelstein B, Lennon AM. Springer S, et al. Among authors: karchin r. Gastroenterology. 2015 Nov;149(6):1501-10. doi: 10.1053/j.gastro.2015.07.041. Epub 2015 Aug 4. Gastroenterology. 2015. PMID: 26253305 Free PMC article.
Using bioinformatics to predict the functional impact of SNVs.
Cline MS, Karchin R. Cline MS, et al. Among authors: karchin r. Bioinformatics. 2011 Feb 15;27(4):441-8. doi: 10.1093/bioinformatics/btq695. Epub 2010 Dec 15. Bioinformatics. 2011. PMID: 21159622 Free PMC article. Review.
Charting the landscape of tandem BRCT domain-mediated protein interactions.
Woods NT, Mesquita RD, Sweet M, Carvalho MA, Li X, Liu Y, Nguyen H, Thomas CE, Iversen ES Jr, Marsillac S, Karchin R, Koomen J, Monteiro AN. Woods NT, et al. Among authors: karchin r. Sci Signal. 2012 Sep 18;5(242):rs6. doi: 10.1126/scisignal.2002255. Sci Signal. 2012. PMID: 22990118 Free PMC article.
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.
PREDICT-2ND: a tool for generalized protein local structure prediction.
Katzman S, Barrett C, Thiltgen G, Karchin R, Karplus K. Katzman S, et al. Among authors: karchin r. Bioinformatics. 2008 Nov 1;24(21):2453-9. doi: 10.1093/bioinformatics/btn438. Epub 2008 Aug 30. Bioinformatics. 2008. PMID: 18757875 Free PMC article.
141 results