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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, [ ... ], Keyur P. Patel

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

Guoli Li, Xinwu Guo, [ ... ], Jun Wang

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

Jing Meng, Yi-Ping Phoebe Chen

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

Fang Liu, Zhe Wang, [ ... ], Huilan Rao

Germline and somatic mtDNA mutations in mouse aging

Hong Ma, Yeonmi Lee, [ ... ], Shoukhrat Mitalipov

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

Leah M. Prentice, Ruth R. Miller, [ ... ], Brandon S. Sheffield

Xome-Blender: A novel cancer genome simulator

Roberto Semeraro, Valerio Orlandini, Alberto Magi

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, [ ... ], Marcel F. Jonkman

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, [ ... ], Kikuya Kato

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia

Liping Yu, Junqing Zhang, [ ... ], Qun He

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

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

Actionable mutations in canine hemangiosarcoma

Guannan Wang, Ming Wu, [ ... ], David B. Roth

Genomic analysis of atypical fibroxanthoma

Kevin Lai, Catherine A. Harwood, [ ... ], Sarah T. Arron

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