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Article

Detection of genome-wide copy number variants in myeloid malignancies using next-generation sequencing.

Journal of clinical pathology - 1 Apr 2018

Shen Wei, Paxton Christian N, Szankasi Philippe, Longhurst Maria, Schumacher Jonathan A, Frizzell Kimberly A, Sorrells Shelly M, Clayton Adam L, Jattani Rakhi P, Patel Jay L, Toydemir Reha, Kelley Todd W, Xu Xinjie

Abstract excerpt

AIMS: Genetic abnormalities, including copy number variants (CNV), copy number neutral loss of heterozygosity (CN-LOH) and gene mutations, underlie the pathogenesis of myeloid malignancies and serve as important diagnostic, prognostic and/or therapeutic markers. Currently, multiple testing strategies are required for comprehensive genetic testing in myeloid malignancies. The aim of this proof-of-principle study...

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PMID: 29197855
DOI: 10.1136/jclinpath-2017-204823

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