Genome variants - regional distribution analysis
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3.0 years ago
cocchi.e89 ▴ 290

I have some sets of WGS variants and I would like to see if there is any form of regional enrichment distribution of these mutations (e.g. if they tend to accumulate in some particular region within a chromosome etc.). Is there any tool/way to do such a comparison?

I googled around and found some visualization tools, but nothing else

Thank you very much in advance for any help!

genome human variants distribution • 657 views
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Assuming you have a VCF file with your variants, I'd start by simply viewing it in IGV or other genome browser and see if there is anything interesting going on. If you want something more accurate, you could write your own script to count the number of variants in genomic windows, or maybe use one of the commands available in bedtools.

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