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Article

Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data

2018-11-30

Abstract excerpt

<h4>Background</h4> Whole genome sequencing (WGS) has increased in popularity and decreased in cost over the past decade, rendering this approach as a viable and sensitive method for variant detection. In addition to its utility for single nucleotide variant detection, WGS data has the potential to detect Copy Number Variants (CNV) to fine resolution. Many CNV detection software packages have been developed explo...

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Literature Corpus work
cba2290f-83ac-50df-a8b6-3aa8890ea5e0
DOI
10.1101/482554
Open publication

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Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing dataDOI 10.1101/482554
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