Article

Population-wide copy number variation calling using variant call format files from 6,898 individuals

2018-12-21

Abstract excerpt

<h4>Motivation</h4> Copy number variants (CNVs) are large deletions or duplications at least 50 to 200 base pairs long. They play an important role in multiple disorders, but accurate calling of CNVs remains challenging. Most current approaches to CNV detection use raw read alignments, which are computationally intensive to process. <h4>Results</h4> We use a regression tree-based approach to call CNVs from whole...

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Literature Corpus work: a64af68b-85b4-5bed-a634-8e8e5a3229f5
DOI: 10.1101/504209

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