Category: 2016

Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants T

Mascia DL, Karchin R (2016) Towards increasing the clinical relevance of in silico methods to predict pathogenic missense variants. PLoS Computational Biology. May 12;12(5):e1004725.

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Evolution of Neoantigen Landscape during Immune Checkpoint Blockade in Non-Small Cell Lung Cancer E

Anagnostou V, Smith KN, Forde PM, Niknafs N, Bhattacharya R, White J, Zhang T, Adleff V, Phallen J, Wali N, Hruban C, Guthrie VB, Rodgers K, Naidoo J, Kang H, Sharfman W, Georgiades C, Verde F, Illei P, Li QK, Gabrielson E, Brock MV, Zahnow CA, Baylin SB, Scharpf RB, Brahmer JR, Karchin R, Pardoll …

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Evaluating the evaluation of cancer driver genes E

Tokheim CJ, Papadopoulos N, Kinzler KW, Vogelstein B, Karchin R. Evaluating the evaluation of cancer driver genes. Proc Natl Acad Sci U S A. 2016 Dec 13;113(50):14330-14335. doi: 10.1073/pnas.1616440113. Epub 2016 Nov 22. PMID: 27911828; PMCID: PMC5167163.

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Genome Landscapes of Disease: Strategies to Predict the Phenotypic Consequences of Human Germline and Somatic Variation G

Karchin R, Nussinov R (2016) Genome landscapes of disease: strategies to predict the phenotypic consequences of human germline and somatic variation. PLoS Comput Biol. Aug 18;12(8):e1005043

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Exome-Scale Discovery of Hotspot Mutation Regions in Human Cancer Using 3D Protein Structure E

Tokheim C, Bhattacharya R, Niknafs N, Gygax DM, Kim R, Ryan M, Masica DL, Karchin R. Exome-Scale Discovery of Hotspot Mutation Regions in Human Cancer Using 3D Protein Structure. Cancer Res. 2016 Jul 1;76(13):3719-31. doi: 10.1158/0008-5472.CAN-15-3190. Epub 2016 Apr 28. PMID: 27197156; PMCID: PMC4930736.

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Exome Sequencing of Familial Bipolar Disorder E

Goes FS, Pirooznia M, Parla JS, Kramer M, Ghiban E, Mavruk S, Chen YC, Monson ET, Willour VL, Karchin R, Flickinger M, Locke AE, Levy SE, Scott LJ, Boehnke M, Stahl E, Moran JL, Hultman CM, Landén M, Purcell SM, Sklar P, Zandi PP, McCombie WR, Potash JB. (2016) Exome sequencing of bipolar disorder JAMA Psychiatry. Jun …

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Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society P

Oetting WS, Brenner SE, Brookes AJ, Greenblatt MS, Hart RK, Karchin R, Sunyaev SR, Taschner PE (2016) Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society. Human Mutation. Jan 21. doi: 10.1002/humu.22958. [Epub ahead of print]

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Whole-Genome Sequencing of Salivary Gland Adenoid Cystic Carcinoma W

Rettig EM, Talbot Jr CC, Sausen M, Jones S, Bishop JA, Wood LD, Tokheim C, Niknafs N, Karchin R, Papadopoulos N, Fertig EJ, Wheelan SJ, Marchionni L, Considine M, Ling S, Fakhry C, Papadopolous N, Kinzler KW, Vogelstein B, Ha PK, Agrawal N (2016) Whole-genome sequencing of salivary gland adenoid cystic carcinoma. Cancer Prevention Research. 2016 …

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Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer W

Roberts NJ, Norris A, Petersen GM, Bondy ML, Brand R, Gallinger S, Kurtz RC, Olson SH, Rustgi AK, Schwartz AG, Stofel E, Syngal S, Zogopoulos G, Ali SZ, Axilbund J, Chaffe KG, Chen YC, Cote ML, Childs EJ, Douville C, Goes FS, Herman JM, Iacobuzio-Donahue C, Kramer M, Makohon-Moore A, McCombie WR, McMahon K, Niknafs …

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Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel) A

Douville C, Masica DL, Stenson PD, Cooper DN, Gygax D, Kim R, Ryan M, Karchin R (2016) Assessing the pathogenicity of insertion and deletion variants with the Variant Effect Scoring Tool (VEST-indel) Human Mutation. 37(1):28-35

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