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How to Specify Genome Build in MutSigCV Input ?

Hello,

I wonder if there is a way to to specify the genome assembly given to MutSigCV? I would like to use GRCh37.75 as I'm getting the following error :

Error using MutSigCV>MutSig_preprocess (line 542)
probable build mismatch between mutation_file and chr_files

For I've been using the reference files coming with the tool.

I'm very grateful for any quick help

gene assembly snp genome

Hi,

Were you able to resolve this issue? I am running into the same problem now.

Thanks!

Unfortunately no! I would love to know how!

1 answer

I had this issue as well using the reference files that came with the tool, and it turned out I had a 1-off error- on the Start_position in the input mutation file. It should be 1-based relative to the Reference_Allele.
The way I figured this out was to check the base at specific positions in the provided reference files with commands such as head -c <position> chr1.txt|tail -c 1 and make sure the output matched the Reference_Allele base(s) in my input maf.
If you wanted to use a custom genome build instead of the hg19 provided, your format would probably need to be similar to the provided files, 1 file per chromosome with no linebreaks, so you'd have to convert a typical fasta accordingly (something like cat <your_reference_fasta_chromosome>|grep -v ">"|awk '{printf $1}' > <out_chr.txt>

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