find tandem repeats in DNA from CRAM/VCF file
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22 months ago
anubratadas ▴ 20

I want to find tandem repeats in DNA. I have access to CRAM file and the VCF file. I initially tried to get the insertions from the VCF file, but I am not sure if the variant caller has included all the repeats and if that is the correct strategy. So I want to find these repeats in the CRAM file also, to be certain. are there any packages for this?

one approach suggested was that i use samtools mpileup to create a consensus sequence and then search for tandem repeats. would this be an appropriate strategy?

I am new in this kind of analysis and will be very thankful for your help

repeats CRAM tandem VCF • 745 views
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22 months ago

search for STR in github: eg. https://github.com/quinlan-lab/STRling , https://github.com/Illumina/ExpansionHunterDenovo , etc ... and in pubmed...

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Thanks a lot Pierre

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