New Interpretation Browser User Guide

Purpose

The purpose of this site is to provide NHS Clinical Scientists, Clinicians and Bioinformaticians a step-by-step guide to the Genomics England New Interpretation Browser (New IB).

Scope

This site provides a guide to the current functionaity of the New IB:

1. Open rare disease cases ready for NHS GLH review, and track case status
2. Review findings from the analysis of rare disease WGS cases
3. Assign classification to variants identified in the patient

Target Audience

Genomic Laboratory Hub (GLH) staff handling the interpretation of Rare Disease whole genome sequencing (WGS) data using the Genomics England Interpretation Platform.

Other Third Party Audiences

The external audience for this document may include medical device regulators and associated agencies in the pursuit of medical device regulatory and standards certification including:

UK Competent Authority: (CAs) the Medicines and Healthcare Products Regulatory Agency (MHRA); Notified Bodies (NBs) such as BSI Group; NHS Digital; the NHS IT regulator in England and Wales. This document may also be requested by existing and prospective Genomics England customers as part of their procurement process. All external distribution of the must be approved by a member of the Quality Improvements and Regulatory Affairs team prior to circulation.

Additional Resources

Interpretation Platform Documentation Rare Disease Genome Analysis Guide

Issues and Feedback

For details on known issues and how to provide feedback on the New IB, please visit the issues page.