Users can now run Exomiser using parameters of their choosing. For example, users can set the allele frequency , variant type, inheritance mode, and model organisms. To use Exomiser, from the menu Reports -> Exomiser. Results will be emailed to you when completed....

Similar to the pipeline annotated search, the gnomAD annotated search now supports de novo and mendelian inheritance filters....

As of Jan 29, 2020 (cpi28 relaese), datasets generated from pipeline version v2.0 and v2.1 have been dropped from the database in favor of the newer pipeline versions v2.3 and v2.38. Those that would still like to access the older pipeline versions can do on a request basis. Or can request to their data reanalyzed using newer versions of the pipeline....

We've introduced a more efficient way of downloading the alignment files without having to download the entire BAM by focusing on the variant of interest. We've added a packaged download of all the needed files (VCF, BAM, indexes) for offline viewing. The original BAM is truncated to include 1000 bps before the start coordinate and 1000 bps after the end coordinate of the variant. These files can be found i...

We've introduced an exciting new way to browse and filter variants using annotations provided by gnomAD for exomes. The existing search, which is based on the pipeline provided annotations, is unchanged and can still be used in the usual way. This format of the search looks at the same data, but viewed in a different way. There are several differences between 2 search mechanisms. The primary difference is t...