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Short pipeline that forks umi-processing to CNV-calling of targeted sequencing data. The calls are adjusted for tumor purity and ploidy. Uses cnvKIT for the CNV calling and PureCN to estimate tumor purity and chromosomal ploidy.

Input:

  • umi-processing-style config file
  • umi-processing until the vardict step

Output:

  • vcf: directory containing purity and ploidy adjusted CNV-calls
  • plots: scatterplots of CNV-calls

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cnv calling with NGS data

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