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Somatic mutation

Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations

William J. Tapper, Nicola Foulds, Nicholas C. P. Cross, Paula Aranaz, Joannah Score, Claire Hidalgo-Curtis, David O. Robinson, Jane Gibson, Sarah Ennis, I. Karen Temple, Andrew Collins

published 31 Jan 2014

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Integrative Genetic Characterization and Phenotype Correlations in Pheochromocytoma and Paraganglioma Tumours

Joakim Crona, Margareta Nordling, Rajani Maharjan, Dan Granberg, Peter Stålberg, Per Hellman, Peyman Björklund

published 22 Jan 2014

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Tumor-Specific Hypermethylation of Epigenetic Biomarkers, Including SFRP1, Predicts for Poorer Survival in Patients from the TCGA Kidney Renal Clear Cell Carcinoma (KIRC) Project

Christopher J. Ricketts, Victoria K. Hill, W. Marston Linehan

published 15 Jan 2014

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Colorectal Tumors from APC*I1307K Carriers Principally Harbor Somatic APC Mutations outside the A8 Tract

Peter Zauber, Timothy Bishop, Claire Taylor, Marlene Sabbath-Solitare, Stephen Marotta, Ian Tomlinson

published 09 Jan 2014

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Determination of HER2 Amplification Status on Tumour DNA by Digital PCR

Isaac Garcia-Murillas, Maryou Lambros, Nicholas C. Turner

published 26 Dec 2013

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Exome Sequencing Identifies Early Gastric Carcinoma as an Early Stage of Advanced Gastric Cancer

Guhyun Kang, Woo Cheol Hwang, In-Gu Do, Kai Wang, So Young Kang, Jeeyun Lee, Se Hoon Park, Joon Oh Park, Won Ki Kang, Jiryeon Jang, Min-Gew Choi, Jun Ho Lee, Tae Sung Sohn, Jae Moon Bae, Sung Kim, Min Ji Kim, Seonwoo Kim, Cheol Keun Park, Kyoung-Mee Kim

published 23 Dec 2013

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Drug Resistance Missense Mutations in Cancer Are Subject to Evolutionary Constraints

Ran Friedman

published 20 Dec 2013

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Whole Exome Sequencing Identifies Novel Recurrently Mutated Genes in Patients with Splenic Marginal Zone Lymphoma

Marina Parry, Matthew J. J. Rose-Zerilli, Jane Gibson, Sarah Ennis, Renata Walewska, Jade Forster, Helen Parker, Zadie Davis, Anne Gardiner, Andrew Collins, David G. Oscier, Jonathan C. Strefford

published 13 Dec 2013

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Deciphering Genomic Alterations in Colorectal Cancer through Transcriptional Subtype-Based Network Analysis

Jing Zhu, Jing Wang, Zhiao Shi, Jeffrey L. Franklin, Natasha G. Deane, Robert J. Coffey, R. Daniel Beauchamp, Bing Zhang

published 15 Nov 2013

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Predictive Markers of Efficacy for an Angiopoietin-2 Targeting Therapeutic in Xenograft Models

Gallen Triana-Baltzer, Adam Pavlicek, Ariadne Goulart, Hanhua Huang, Steven Pirie-Shepherd, Nancy Levin

published 14 Nov 2013

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Tumor Mutation Burden Forecasts Outcome in Ovarian Cancer with BRCA1 or BRCA2 Mutations

Nicolai Juul Birkbak, Bose Kochupurakkal, Jose M. G. Izarzugaza, Aron C. Eklund, Yang Li, Joyce Liu, Zoltan Szallasi, Ursula A. Matulonis, Andrea L. Richardson, J. Dirk Iglehart, Zhigang C. Wang

published 12 Nov 2013

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An Integrated Inspection of the Somatic Mutations in a Lung Squamous Cell Carcinoma Using Next-Generation Sequencing

Lucy F. Stead, Philip Egan, Aoife Devery, Caroline Conway, Catherine Daly, Stefano Berri, Henry Wood, Ornella Belvedere, Kostas Papagiannopoulos, Anderson Ryan, Pamela Rabbitts

published 11 Nov 2013

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Somatic Point Mutation Calling in Low Cellularity Tumors

Karin S. Kassahn, Oliver Holmes, Katia Nones, Ann-Marie Patch, David K. Miller, Angelika N. Christ, Ivon Harliwong, Timothy J. Bruxner, Qinying Xu, Matthew Anderson, Scott Wood, Conrad Leonard, Darrin Taylor, Felicity Newell, Sarah Song, Senel Idrisoglu, Craig Nourse, Ehsan Nourbakhsh, Suzanne Manning, Shivangi Wani, Anita Steptoe, Marina Pajic, Mark J. Cowley, Mark Pinese, David K. Chang, Anthony J. Gill, Amber L. Johns, Jianmin Wu, Peter J. Wilson, Lynn Fink, Andrew V. Biankin, Nicola Waddell, Sean M. Grimmond, John V. Pearson

published 08 Nov 2013

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