Research Environment Training Session: Using the Research Environment for clinical diagnostic discovery

The rich phenotypic and medical history data, coupled with whole genome sequences available in the GEL Research Environment provides a unique opportunity for diagnostic discovery. In this training session we will take you through the data available in the GEL RE, including results of our own bioinformatic diagnostic analysis, and how you can access these, as well as tools available to filter the data, carry out your own analyses and validate your results. As part of the training, we will show you how to submit your genetic diagnoses to the clinical Genomic Medicine Service or contact clinicians, leading to direct clinical application of your work.

This training is aimed at clinical geneticists and does not require any coding skills. You will have chance to ask questions of our clinical team, who assess submitted diagnoses, and see what happens to your submissions.

You are only allowed to attend this session if you are eligible for data access. This means that you are a Research Network or Discovery Forum member that has met the necessary verification checks and passed our Information Governance training course. If you do not meet this criterion by 13th January 2025 you will be unregistered for this session.

Timetable

13.30 Welcome and introduction
13.35 GEL ingestion of rare disease participants

13.45 Identifying participants who need a diagnosis

13.55 Finding results of GEL analysis

14.05 Exploring variants in IVA

14.15 Validate your diagnosis

14.25 Find and compare other participants with the same variant

14.35 Submit your diagnosis and/or contact clinicians
14.45 Getting help and questions

Learning objectives

After this training you will know:

• How GEL analyses new rare disease genomes and where to find the results of these analyses
• How to filter, analyse and validate variants in a participant of interest
• How to submit diagnoses to the GMS

Target audience:

This training is aimed at researchers who:

• Are working in the Genomics England RE
• Are clinical geneticists trying to do diagnostic discovery
• Do not necessarily have any coding skills