Question: splice site mutations
gravatar for bioguy24
6.6 years ago by
bioguy24190 wrote:


Can someone recommend a hg19 splice site database in which the data can be parsed and then queried against by annovar.  Does a site exist?  Thanks.

forum next-gen database • 1.8k views
ADD COMMENTlink modified 6.6 years ago by Pierre Lindenbaum133k • written 6.6 years ago by bioguy24190
gravatar for Charles Warden
6.6 years ago by
Charles Warden8.0k
Duarte, CA
Charles Warden8.0k wrote:

Actually, ANNOVAR provides some splice site information in the "Func" column of the exome/genome reports.  If I recall, I believe MutationTaster also takes splice site predictions into account (and MutationTaster damaging predictions are included in the main ANNOVAR report).

Additionally, these are two programs that I am currently testing for this purpose:



I haven't had a chance to complete my testing, so I don't yet have an opinion about those programs.  However, they looked like they could be potentially useful.

ADD COMMENTlink written 6.6 years ago by Charles Warden8.0k
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