Known databases for pathogenic SNV's in the non coding regions
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7.0 years ago
osiemen ▴ 30

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

I want to use it for validation.

All tips are welcome!

next-gen genome snp • 2.1k views
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7.0 years ago

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

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thanks a lot dear Pierre!

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

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