Using XCAVATOR and EXCAVATOR2 to Identify CNVs from WGS, WES, and TS Data. (5th July 2018)

• Record Type: Journal Article
• Authors: D'Aurizio, Romina; Semeraro, Roberto; Magi, Alberto
• Editors: Dracopoli, Nicholas C.; Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R.
• Is Part Of: Current protocols in human genetics. Volume 98(2018)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2018-07-05
• Subjects: copy number variant -- CNV -- structural variant -- SV -- whole‐genome sequencing -- WGS -- whole‐exome sequencing -- WES -- targeted sequencing -- TS; Human genetics -- Laboratory manuals; Genetic Techniques; Human genetics; Laboratory manuals; 599.935028
• DOI: 10.1002/cphg.65
• Languages: English
• ISSNs: 1934-8258

Abstract

Abstract: Copy Number Variants (CNVs) are structural rearrangements contributing to phenotypic variation but also associated with many disease states. In recent years, the identification of CNVs from high‐throughput sequencing experiments has become a common practice for both research and clinical purposes. Several computational methods have been developed so far. In this unit, we describe and give instructions on how to run two read count–based tools, XCAVATOR and EXCAVATOR2, which are tailored for the detection of both germline and somatic CNVs from different sequencing experiments (whole‐genome, whole‐exome, and targeted) in various disease contexts and population genetic studies. © 2018 by John Wiley & Sons, Inc.