Article

GROM-RD: Resolving genomic biases to improve read depth detection of copy number variants

2014-12-04

Abstract excerpt

Amplifications or deletions of genome segments, known as copy number variants (CNVs), have been associated with many diseases. Read depth analysis of next-generation sequencing (NGS) is an essential method of detecting CNVs. However, genome read coverage is frequently distorted by various biases of NGS platforms, which reduce predictive capabilities of existing approaches. Additionally, the use of read depth tools...

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Literature Corpus work: 5916c0f8-bb83-5acf-9e5e-6423663f0fe6
DOI: 10.7287/peerj.preprints.663v1

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