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Welcome to the Interpretation Portal

Overview

The Interpretation Portal (IP) is used by Genomic Laboratory Hubs (GLHs) to review the results of the Genomics England interpretation pipelines for rare disease, cancer and additional findings.

What's New? Coming up!

Key Features

  • Referral Overview: Track and manage referrals ready for NHS GLH review
  • Review Findings: Analyze results from Tiering and Exomiser
  • File Management: Download available files and access Decision Support Systems
  • Reporting: Complete Reporting Outcomes questionnaire to close referrals
  • Draft Saving: Save work in progress and resume later
  • 100,000 Genomes Project: Access Primary and Additional Findings

Getting Started

GMS Interpretation Portal 100K Interpretation Portal

Additional Resources

Documentation for all Interpretation Platform Applications

Rare Disease Genome Analysis Guide

Cancer Genome Analysis Guide

IGV User Guide

100K Rare Disease Documentation

100K Cancer Documentation

Feedback

We value your input! If you have any feedback on the Interpretation Portal, please contact the Genomics England Service Desk:

ge-servicedesk@genomicsengland.co.uk

For more information on providing feedback, click here.



Last update: 2024-10-07