etal / cnvkit

Copy number variant detection from targeted DNA sequencing
http://cnvkit.readthedocs.org
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Is there any good ideas about which options/method of cnvkit would be recommended when calling CNAs in ctDNA samples? Due to unknown sample purity ,I hava got so much genes and segments in my ctDNA sample with subcommand genemetrics. #701

Open whiffen-cann opened 2 years ago

whiffen-cann commented 2 years ago

I have used the following options : subcommand:

etal commented 2 years ago

It depends on the type of sequencing you're doing for these ctDNA samples. Are you capturing/amplifying a gene panel, enriching the whole exome, or sequencing the whole genome?

You can estimate tumor fraction with PureCN; that might help. Generally, segmetrics --ci --alpha .1 --drop-low-coverage and call --filter ci should help.

whiffen-cann commented 2 years ago

Hi @etal,the sequencing method for my cfDNA samples is enriching the whole exome。