etal / cnvkit

Copy number variant detection from targeted DNA sequencing
http://cnvkit.readthedocs.org
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method #743

Open stroke1989 opened 2 years ago

stroke1989 commented 2 years ago

Hi, I'm a new to cnvkit. Thanks for this excellent tool. As it was pointed out in the documentation, CNVkit is primarily designed for use on hybrid capture sequencing data, where off-target reads are present and can be used improve copy number estimates. However, CNVkit can also be used on whole-genome sequencing (WGS) and targeted amplicon sequencing (TAS) datasets by using alternative command-line options.

The batch command supports these workflows through the -m/--method option. My data are WES sequencing, which method should I choose?--method wgs OR --method hybrid? Hope your reponse.

tetedange13 commented 2 years ago

Hi @stroke1989,

Contrary to WGS where you take all input DNA, Whole Exome Sequencing is part of the "enrichment methods" => Same as a panel of genes, except that here you are targetting all exons from all genes

Among "enrichment methods" :

These 3 wetlab cases are reflected by --method param possible values => As far as I know most WES wetlabs are hybrid-capture based, so you can go with --method hybrid (which is default so no need to explicitly set this parameter) => But you should be able to check this information (regarding enrichment method) in your wetlab protocol

Hope this helped ! Have a nice day, Felix.