Anyone know of a good workflow/tools to look at trisonomy in the 500K cohort? I don't have much experience with CNVs so beginner level explanations would be much appreciated, thanks!

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2 comments

  • Comment author
    Ondrej Klempir DNAnexus Team

    @Ben Busby?, please do you have any idea on which tool would be a good fit for this?

    0
  • Comment author
    Anastazie Sedlakova DNAnexus Team

    Hello, I do not have my own experience, but I know that other researchers are using PennCNV to get CNV from genotyping results.

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