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dariober / cnv_facets

Somatic copy variant caller (CNV) for next generation sequencing
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Germline CNV calling? #16

Closed xysj1989 closed 4 years ago

xysj1989 commented 4 years ago

Hello,

We only have Families based Whole Genome Sequencing data from germline blood samples. Is it possible to use facets conduct germline CNV calling?

Best regards.

dariober commented 4 years ago

Hi- I guess you could run your samples against an unmatched normal sample that doesn't contain CNVs. The unmatched normal could even be created by combining several normal samples.

However, it may be better to use a CNV caller designed for germline calling, like canvas.