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How to generate Panel of Normals for the pipeline? #2

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YingYa opened this issue Jul 1, 2020 · 1 comment
Open

How to generate Panel of Normals for the pipeline? #2

YingYa opened this issue Jul 1, 2020 · 1 comment
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@YingYa
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YingYa commented Jul 1, 2020

Hello,

I would like to use the pipeline to call somatic mutations from tumor-only RNAseq data. Would you mind to detail that how to generate the Panel of Normals?

Thanks,
Ya

@pablo-gar
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pablo-gar commented Jul 8, 2020

Hi Ya,

In this study I used two types of PoN

  1. Tissue-specific PoN
  2. Whole-data PoN

Those were constructed as follows:

Tissue-specific PoN eliminates all mutations that occur at least 40% across samples of the same tissue
Whole-data PoN eliminates all mutations that occur at least 4% across samples of all tissues

You can calculate the frequency of unique mutations from a mutation map file using this shell command. A mutation map has to have at least these tab-separated columns: chromosome, position, reference base, mutation. For example:
chr1 25451781 G A

@pablo-gar pablo-gar added the question Further information is requested label Jul 8, 2020
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