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Multiple mutations in same gene in one tree #1

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KristianaKGrigoriadis opened this issue Aug 25, 2022 · 0 comments
Open

Multiple mutations in same gene in one tree #1

KristianaKGrigoriadis opened this issue Aug 25, 2022 · 0 comments

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@KristianaKGrigoriadis
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Hi,

Thank you for the clear instructions on installing and running RECAP.

I have noticed that when I include patients that have a driver mutation in a gene that appears either:

  • in more than one mutation cluster (e.g. gene MGA in the following example):
    1 #trees for PATIENT1
    4 #edges
    GL TP53;MGA
    KMT2B SEPT12;MGA;PASK;CDH1;CDKN2C
    TP53;MGA ARHGAP35
    TP53;MGA KMT2B

  • more than once within one mutation cluster (e.g. gene CTNNB1 in the following example):
    1 #trees for PATIENT2
    2 #edges
    GL PIK3CA;EGFR
    PIK3CA;EGFR CTNNB1;CTNNB1

RECAP does not run, and the following error is returned:

terminate called after throwing an instance of 'std::runtime_error'
  what():  Error: completing patient trees with missing mutations
Aborted

Is this a known feature of the tool, and would the RECAP input data have to be preprocessed to deal with such cases (e.g. selecting only one mutation cluster within a tree to harbour the gene mutation)? I would assume that it could be biologically plausible that more than one cluster could have a mutation in the same gene, for example in the instance of parallel evolution. How would the authors suggest dealing with such cases?

Thank you very much.

@KristianaKGrigoriadis KristianaKGrigoriadis changed the title Multiple mutations per cluster error Multiple mutations in same gene in one tree Aug 25, 2022
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