Background¶
This guide aims to assist Genomic Laboratory Hub (GLH) Clinical Scientists using the Integrative Genomics Viewer (IGV) to review data for Rare Disease and Cancer referrals in the Genomic Medicine Service (GMS). While this guide will use examples of IGV within the Interpretation Portal, IGV can also be used as a desktop application in conjunction with batch files available from the interpretation portal.
This document covers:
- Accessing IGV through the Interpretation Portal
- Accessing data files using IGV
- Technical assessment of variants of interest
Getting started¶
Using IGV Visualising Rare Disease Visualising Cancer
Supporting or Reference Documents¶
For further assistance and information on the use of IGV for Cancer or Rare Disease variant visualisation, please refer to the IGV user guide (http://software.broadinstitute.org/software/igv/UserGuide) or contact the Genomics England Service Desk (ge-servicedesk@genomicsengland.co.uk).