Question: Are Cosmic Mutations Only In Exonic Regions?
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gravatar for kanwarjag
5.4 years ago by
kanwarjag960
United States
kanwarjag960 wrote:

I am little confused while working with my own WGS data, I used Variant analysis work flow, which in one step keeps mutations that has been reported >5% of COSMIC database. When I see my final list of mutations I see lot of small variations in UTR, promotes. Then I looked at the entry of COSMIc mutations- of around 200 SVs there are only 20 entries of COSMIC mutations in my dataset. My question is all COSMIc mutations are only in exonic regions ? Thanks and apology for a very naive question

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ADD COMMENTlink modified 5.4 years ago by Sean Davis25k • written 5.4 years ago by kanwarjag960

I think that this is because most of the COSMIC data comes from exome sequencing. Let's see if someone more experienced than me can confirm it.

ADD REPLYlink written 5.4 years ago by Giovanni M Dall'Olio26k
0
gravatar for Sean Davis
5.4 years ago by
Sean Davis25k
National Institutes of Health, Bethesda, MD
Sean Davis25k wrote:

COSMIC is gene-centric because of its history, but the variants are not only exonic. The data do not come entirely from exome sequencing (or from NGS, for that matter).

The most recent NEWS entry describes some of the details about where the COSMIC data are obtained.

http://cancer.sanger.ac.uk/cosmic/news

ADD COMMENTlink modified 5.4 years ago • written 5.4 years ago by Sean Davis25k
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