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.
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 that the pipeline annotated search is never updated and represents the annotations that were current at the time they were analyzed. On the other hand, the gnomAD annotated search is updated quarterly with every new release of gnomAD across all previously analyzed patients. By using the latest frequencies and gene names, we can go back and review cases that were previously unsolved. There are several other differences that should be noted: The pipeline annotated search displays ONE variant linked to ONE transcript. With the gnomAD annotated search, we are displaying transcripts (
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.