What's the difference between GWAS Catalog and COSMIC database ?
1
0
Entering edit mode
6.0 years ago
hsiaoyi0504 ▴ 70

Hi there, I am new to analyze GWAS data. I see there are at least two major databases:

It looks like they have similar dataset. Can anyone tell me what's the difference between this two databases ?

gwas snp • 1.2k views
ADD COMMENT
4
Entering edit mode
6.0 years ago

They are quite different, in fact.

I will not go into the finer details, but, as a quick summary:

COSMIC

Primary goal is to catalogue somatic mutations in cancer, so, mutations that are present in a tumour biopsy that are not present in the matched normal. In some cases, a variant that 'may' be somatic is included if it was identified in a tumour sample that came from a study where no matched normal was used (or a pool of normals was used).

GWAS Catalog

This catlogues statistically significant variants that were identified in GWAS. It catalogues these for cancer and other diseases / traits, too. So, these are likely germline variants that have been found to increase/decrease risk for the phenotype in question. It is obviously well documented that germline variants, even those with MAFs as high as 10%, can increase risk of cancer.

Trust this helps.

Kevin

ADD COMMENT

Login before adding your answer.

Traffic: 1893 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6