Info
This documentation aims to consolidate the following user guide into a single accesible website: NHS Futures' Congenica User Guide
In addition, it provides updated links to new and improved documentation for other applications in the Interpretation Platform.
Warning
This guide is specific to the Genomics England GMS Congenica workflows and functionality.
For further information and guidance on generic Congenica features (curated variant lists, gene panels, filtering, etc.) please refer to the main Congenica user manual
Getting Started¶
Purpose¶
This guide is for NHS GLH users of Congenica within the Genomics England Interpretation Platform. It describes how Congenica can be used to review potential candidate variants identified in submitted samples, and how to finalise the results.
Scope¶
The Genomics England aspects of the Rare Disease workflow are described in separate complementary documentation titled Rare Disease Genome Analysis Guide and the Interpretation Portal guide.
Target Audience¶
This guide is for users within NHS Genomics Laboratory Hubs (GLHs) analysing Whole Genome Sequencing data via the Congenica Decision Support Service. It describes how Congenica can be used to review potential candidate variants identified in submitted samples, and how to finalise the result.
Additional Resources¶
Full Congenica User Manual
Interpretation Platform Documentation
100K Rare Disease Analysis Guide
100K Cancer Documentation
Genomics England Rare Disease Genome Analysis Guide
v2.0
Feedback¶
If you have any feedback on the Interpretation Portal please contact the Genomics England Service Desk at ge-servicedesk@genomicsengland.co.uk.