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Release notes

Releases for the Rare Disease pipeline are bundled with NGIS releases, details of which can be found here.

Early Access Release - Lyra

Please note that the online guide provided for Lyra is an early access release to increase familarity with the online user guide. For the official and approved guidance please refer to the v2.4.1 rare disease user guide available through the NHS Futures website under “NHS Genomic Medicine Service” > “Guidance” “Genomics England Documentation”).

Lyra

Release information

The Lyra release of the online user guide is an early access release and replicates the v2.4.1 rare disease user guide available through the NHS Futures website under “NHS Genomic Medicine Service” > “Guidance” > “Genomics England Documentation”).

There are some minor changes of the content and presentation after migration of the PDF to the online user guide:

  • "The Clinical Reporting Workflow" section renamed to "Variant Prioritisation Approaches"
  • Reordering and joining of Sections 1-7 into "Background"
  • Update of population allele frequency information used during small variant tiering
  • Removal of Section 9.7 "Short SNV and Indel (small variant) Tiering guide for bioinformaticians"
  • Changes in presentation format across all sections, including splitting up of larger sections of the guide and reorganisation of content where appropriate

Prior to Lyra

Release information prior to Lyra
  • information about specific changes to releases prior to Lyra are available in previous versions of the Genomics England rare disease user guide (available as PDFs through the NHS Futures website under “NHS Genomic Medicine Service” > “Guidance” > “Genomics England Documentation”)