Curated annotation files for human mutation hotspots
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19 months ago

Dear all,

I would like to know any publicly available annotation resource for human mutation hotspots for general disease types. I need it for the PM1 rule of ACMG.

I have seen similar biostars posts for cancer, for example: hotspot DBs for cancer. However, I would like to apply the PM1 rule for general disease type and not specifically to cancer.

Grateful to let me know any such db or annotation file that contain all known human mutational hotspots for general types of disease.

As an alternative, if such db does not exists: I have seen this interesting work, explaining human hotspot mechanisms. This interesting paper gives the mutation rates per variant type (SNV, indel, CNV). But, would you advise someone to use these rates to decide if a region is a hotspot or not?

Thank you in advance!

mutation hotspot annotation human • 560 views
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