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

The rich phenotypic and medical history data, coupled with whole genome sequences available in the Genomics England Research Environment provides a unique opportunity for diagnostic discovery. In this training session we will take you through the data available in the Genomics England Research Environment, 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 (GMS) 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 8 January 2024, you will be unregistered for this session.

You can find materials from past training sessions and information on upcoming training sessions on the Genomics England Research Environment User Guide.

Agenda

13.30 Welcome and introduction
13.35 Genomics England ingestion of rare disease participants
13.45 Identifying participants who need a diagnosis
13.55 Finding results of Genomics England 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 be able to:

• how Genomics England 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 Research Environment
• are clinical geneticists trying to do diagnostic discovery
• do not necessarily have any coding skills