Question: Known databases for pathogenic SNV's in the non coding regions
1
gravatar for osieman52
2.5 years ago by
osieman5220
osieman5220 wrote:

Is there any database available for known pathogenic non coding SNV's ?

I want to use it for validation.

All tips are welcome!

snp next-gen genome • 1.0k views
ADD COMMENTlink modified 2.5 years ago • written 2.5 years ago by osieman5220
1
gravatar for Pierre Lindenbaum
2.5 years ago by
France/Nantes/Institut du Thorax - INSERM UMR1087
Pierre Lindenbaum128k wrote:

A rough exploration using NCBI Clinvar and my tool xsltstream: http://lindenb.github.io/jvarkit/XsltStream.html

ADD COMMENTlink written 2.5 years ago by Pierre Lindenbaum128k

thanks a lot dear Pierre!

ADD REPLYlink written 2.5 years ago by osieman5220

is there any chance to get the output in a Bed file format, i am interested in the positions of the mutations

ADD REPLYlink written 2.5 years ago by osieman5220
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