Using XCAVATOR and EXCAVATOR2 to Identify CNVs from WGS, WES, and TS Data
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. S...
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| Veröffentlicht in: | Current Protocols in Human Genetics 2018-07, Vol.98 (1), p.e65-n/a |
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| container_title | Current Protocols in Human Genetics |
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| creator | D'Aurizio, Romina Semeraro, Roberto Magi, Alberto |
| description | 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. |
| doi_str_mv | 10.1002/cphg.65 |
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| fulltext | fulltext |
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| language | eng |
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| source | Alma/SFX Local Collection |
| subjects | CNV copy number variant structural variant targeted sequencing WES WGS whole‐exome sequencing whole‐genome sequencing |
| title | Using XCAVATOR and EXCAVATOR2 to Identify CNVs from WGS, WES, and TS Data |
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