Copy Number Analysis of Multiple Cohorts Using CNVkit

Question

[weisong]

Hi everyone,

I am currently interested in performing combined analysis on WGS (Whole Genome Sequencing) data from four different cohorts. Some samples in these cohorts lack matched normal controls. I would like to inquire whether it is possible to create a pooled reference using normal samples from different cohorts and then proceed with copy number analysis.

Thank you for your assistance.

Answer 1

[rbioinfo]

How about a human pangenome reference?