Article

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

2017-10-06

Abstract excerpt

Epilepsy will affect nearly 3% of people at some point during their lifetime. Previous copy number variants (CNVs) studies of epilepsy have used array-based technology and were restricted to the detection of large or exonic events. In contrast, whole-genome sequencing (WGS) has the potential to more comprehensively profile CNVs but existing analytic methods suffer from limited accuracy. We show that this is in par...

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Literature Corpus work: 6db8f2b5-957c-584f-bd18-f92e7d068f17
DOI: 10.1101/199224

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