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Somatic mutation

Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era

Santiago Montes-Moreno, Mark J. Routbort, Elijah J. Lohman, Bedia A. Barkoh, Rashmi Kanagal-Shamanna, Carlos E. Bueso-Ramos, Rajesh R. Singh, L. Jeffrey Medeiros, Raja Luthra, Keyur P. Patel

published 17 Sep 2018

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Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients

Guoli Li, Xinwu Guo, Ming Chen, Lili Tang, Hui Jiang, Julia X. Day, Yueliang Xie, Limin Peng, Xunxun Xu, Jinliang Li, Shouman Wang, Zhi Xiao, Lizhong Dai, Jun Wang

published 13 Sep 2018

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A database of simulated tumor genomes towards accurate detection of somatic small variants in cancer

Jing Meng, Yi-Ping Phoebe Chen

published 30 Aug 2018

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Genetic heterogeneity and mutational signature in Chinese Epstein-Barr virus-positive diffuse large B-cell lymphoma

Fang Liu, Zhe Wang, Xiaoge Zhou, Qing Liu, Gang Chen, Hualiang Xiao, Weihua Yin, Shigeo Nakamura, Huilan Rao

published 14 Aug 2018

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Germline and somatic mtDNA mutations in mouse aging

Hong Ma, Yeonmi Lee, Tomonari Hayama, Crystal Van Dyken, Nuria Marti-Gutierrez, Ying Li, Riffat Ahmed, Amy Koski, Eunju Kang, Hayley Darby, Thanasup Gonmanee, Younjung Park, Don P. Wolf, Chong Jai Kim, Shoukhrat Mitalipov

published 24 Jul 2018

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice

Leah M. Prentice, Ruth R. Miller, Jeff Knaggs, Alborz Mazloomian, Rosalia Aguirre Hernandez, Patrick Franchini, Kourosh Parsa, Basile Tessier-Cloutier, Anna Lapuk, David Huntsman, David F. Schaeffer, Brandon S. Sheffield

published 26 Apr 2018

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Xome-Blender: A novel cancer genome simulator

Roberto Semeraro, Valerio Orlandini, Alberto Magi

published 05 Apr 2018

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A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa

Peter C. van den Akker, Anna M. G. Pasmooij, Hans Joenje, Robert M. W. Hofstra, Gerard J. te Meerman, Marcel F. Jonkman

published 22 Feb 2018

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Selective identification of somatic mutations in pancreatic cancer cells through a combination of next-generation sequencing of plasma DNA using molecular barcodes and a bioinformatic variant filter

Yoji Kukita, Kazuyoshi Ohkawa, Ryoji Takada, Hiroyuki Uehara, Kazuhiro Katayama, Kikuya Kato

published 16 Feb 2018

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ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia

Liping Yu, Junqing Zhang, Xiaohui Guo, Xiaoyu Chen, Zhisong He, Qun He

published 25 Jan 2018

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract

Thomas M. Bennett, Oussama M’Hamdi, J. Fielding Hejtmancik, Alan Shiels

published 21 Dec 2017

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Actionable mutations in canine hemangiosarcoma

Guannan Wang, Ming Wu, Martha A. Maloneyhuss, John Wojcik, Amy C. Durham, Nicola J. Mason, David B. Roth

published 30 Nov 2017

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Genomic analysis of atypical fibroxanthoma

Kevin Lai, Catherine A. Harwood, Karin J. Purdie, Charlotte M. Proby, Irene M. Leigh, Namita Ravi, Thaddeus W. Mully, Lionel Brooks, Priscilla M. Sandoval, Michael D. Rosenblum, Sarah T. Arron

published 15 Nov 2017

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