Article

CNVkit: Copy number detection and visualization for targeted sequencing using off-target reads

2014-10-29

Abstract excerpt

Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are of significant importance in syndromic conditions and cancer. Massive parallel sequencing is increasingly used to infer copy number information from variations in the read depth in sequencing data. However, this approach has limitations in the case of targeted re-sequencing, which leaves gaps in coverage between the regions chosen...

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Literature Corpus work: 5049a5e3-32b1-58a4-86fc-030a5e85329b
DOI: 10.1101/010876

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