Genomics England Data

You can find the outputs of bioinformatics pipelines and analyses run by Genomics England in LabKey and in the gel_data_resources folder in the RE filesystem.

The data

You can find details of the data available on the following pages:

• Aggregated variant calls
  • Germline aggregation for rare disease and cancer
  • Somatic aggregated variant calls
  • COVID-19 aggregations
• Genetic similarity to worldwide populations (ancestry) in the UK Biobank
• De novo variant research dataset
• Variant prioritisation:
  • Rare disease tiering
  • Cancer tiering
  • Exomiser
• Solved cases (rare disease)
• HLA variants
• Cancer data:
  • Cancer analysis
  • Staging data (cancer)
  • Orthogonal standard-of-care (SOC) test data (cancer)
  • 100,000 Genomes Cancer Programme - pan-cancer publication
• Long-read sequencing data

The gel_data_resources folder

The gel_data_resources folder contains large files, such as VCFs and JSONs. You can access the gel_data_resources folder either from the desktop or the HPC. This folder is read-only.

Genomics England data can be found in the pilot, main_programme and gms folders, which relate to the different projects. Further folders in gel_data_resources include scripts and workflows.

Within these data folders, pilot, main_programme and gms, data are categorised into folders by type, then date of release, then further subtypes.

LabKey

Data that can be easily displayed in tables are available in LabKey.