My overall goal is to perform CNV analysis on whole genome sequencing using a combinatorial approach (read depth + read pair or split pair). I am looking for rare events for Mendelian disease. Most of the CNV callers I have explored require population level data or paired tumor-normal samples. There are a number of callers I would like to try but are specified for paired tumor-normal samples. Is it possible to use this with the germline sample of interest as the 'tumor' sample with a sample processed in a similar way for the 'normal' control? Or perhaps use a gold standard genome, such as Illumina's platform genomes or Genome in a Bottle samples?
Question: Somatic CNV Caller for Non-cancer samples (whole genome)
2.5 years ago by
dana107 • 0
dana107 • 0 wrote:
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