Pedigrees can be used in CNV detection?

WGLab / PennCNV

Copy number vaiation detection from SNP arrays

http://penncnv.openbioinformatics.org

Other

89 stars 53 forks source link

Pedigrees can be used in CNV detection? #67

Open YiBenqiu opened 3 years ago

YiBenqiu commented 3 years ago

Hi, kai,

I'm a little confused here, if I have pedigrees and signal intensity files for each sample to test for CNV, and the individual's parents don't have signal intensity files, does that mean I can't use the -trio or -joint option to run the PennCNV?

kaichop commented 3 years ago

The trio calling requires that signal data is available on parents. So if the parents do not have signal intensity data, then trio calling cannot be used here.