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REVertant MUTation finder

Project description

You have (a) some transcript mutations in HGVS format that change the reading frame. You want to see if (b) some other transcript mutations in HGVS format revert the mutations in (a). This script applies the mutations in (a) followed by the mutations in (b) and shows how the resulting protein changes in length.

Current workflow of finding revertant mutations is:

  1. Find putative revertant mutations (SNVs at the same location as original SNV, indels that restore the reading frame)
  2. Run those mutations through Oncotator to get transcript change of putative revertant mutations in HGVS format
  3. Check if one of the transcript change in HGVS format is revertant by looking how the length of the protein changes

This script helps you to do 3. Steps 1 and 2 might be added at a later stage in development.

Installation

pip install revmut

Run

::

usage: revmut [-h] [–version] vcf oncotator_file fasta

Check if a mutation is reverted

positional arguments: vcf VCF with mutation to be reverted oncotator_file MAF to find mutations in fasta Fasta file with transcripts

optional arguments: -h, –help show this help message and exit –version show program’s version number and exit

Example

To be reverted mutations like:

  • tests/test_data/to_be_reverted_mutations.txt <tests/test_data/to_be_reverted_mutations.txt>

Oncotator MAF Putative revertant mutations like:

  • tests/test_data/oncotator.del.maf.txt <tests/test_data/oncotator.del.maf.txt>

Check if given mutations are in a bam file:

revmut tests/test_data/to_be_reverted_mutations.txt \
       tests/test_data/oncotator.del.maf.txt \
       tests/test_data/BRCA_transcripts.fa \
       2> example/revmut.log

Output:

Developers

Tests

In root dir run:

nosetests

Project details


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