Among the features we added to GeneTalk in the last weeks, the most important is the preprocessing of uploaded VCF files: GeneTalk automatically adds dbSNP IDs, functional effect and HGVS codes to your VCF file. This feature allows for new steps in the filter process: So far, you can use functional filters (see the new tab on the filter VCF page) and filter out entries with a dbSNP ID (see the new checkbox in the frequency filtering tab).

In the VCF file view, you can get additional information for a position with the new more button. So far, this button gives you the HGVS code. More information will come soon.

Functional filtering:

dbSNP filtering:

The more information window: