The Genomics England project (a.k.a. UK100k genomes) is known as a whole genome sequencing project. It aims to sequence 100,000 genomes from UK NHS patients with Rare Disease or Cancer. But Genomics England have a very nice tool for people interested in targeted sequencing via an NGS panel: the Panel App.
The PanelApp is an open source tool created allow quick design and discussion of virtual gene panels, which could then be viewed and reviewed on by experts – you! There are currently over 150 ‘Version 1’ virtual gene panels available in PanelApp. These cover almost 10,000 genes. 5000 of which are “diagnostic-grade genes” being used in the prioritisation of genetic variants to aid clinical interpretation.
There is no need to register to view panels as the team allows you to ‘browse without logging in’.
Want to get involved? Then contact email@example.com, and they’ll be able to assist you.