Showing posts from February, 2020

Custom Exomiser reports

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.

gnomAD annotated search: De novo & Mendelian inheritance filters

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