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EARLY ACCESS DOCUMENTATION: The Lyra online guide is unofficial and early access Genomics England documentation. For the official and approved guidance for the Lyra release please refer to the v2.4.1 Rare Disease Genome Analysis Guide available through NHS Futures.

Rare Disease Genome Analysis Guide

Authorities and Responsibilities

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Background
Bioinformatics pipeline
Variant prioritisation approaches
Additional information
Release notes

Rare Disease Genome Analysis Guide

Background
Background
Bioinformatics pipeline
Bioinformatics pipeline
- Genome build alignment variant detection
  Genome build alignment variant detection
- Quality control and genomic identity checks
  Quality control and genomic identity checks
Variant prioritisation approaches
Variant prioritisation approaches
- Pre-interpretation review and virtual gene panel assignment
- Panelapp
  Panelapp
- Small variant tiering
  Small variant tiering
- Copy number variant tiering
  Copy number variant tiering
- Short tandem repeats
  Short tandem repeats
- Exomiser
  Exomiser
- Uniparental disomy
Additional information
Additional information
Release notes

Authorities and Responsibilities¶

N/A

2024-01-23

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