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Old 09-04-2014, 05:23 AM   #1
Location: haifa israel

Join Date: Jun 2011
Posts: 62
Default How to search for a known mutation in WGS of disease?

I am working with researchers who have identified a gene mutation which significantly affects protein function.
They want to search all existing NGS (esp cancer) data to see whether this protein occurs in diseased tissue (and not just in the cell line they are studying).

Just to clarify- basically what we need to do is essentially look for a particular region of a particular gene to search for a mutation by going through as much WGS as possible (raw fastq? bam files? other mutational database?) to find diseases in which this sequence is present in its mutated form.

I would greatly appreciate suggestions on how to do this.
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