100kGP Clinical and phenotype data

All participants in the RE have extensive clinical and phenotype data, including information on the recruited disease and medical history, both retrospective and regularly updated.

For further information on the data available in the latest data release please visit the most recent 100kGP data release. All tables and their fields are described in our data dictionary.

For details on the different tables, please refer to our sections on:

• Cancer-specific clinical data
• Rare disease-specific clinical data
• General clinical data

Primary and secondary data

Clinical data available in the RE are classified as Primary or Secondary:

• Primary clinical data were collected when participants were enrolled in the programme. They were sourced from the Genomic Medicine Centres (GMCs), who followed set data models that specify the variables and matching data types. Tables of primary data will be tagged with in this User Guide.
• Secondary clinical data come from third parties such as NHSE. These data complement the primary clinical data with additional information such as hospital visits and cancer treatments. Tables of secondary data they will be tagged with in this User Guide.

Accessing clinical and phenotype data

Clinical and phenotype data can be accessed via LabKey.

All datasets can be accessed via:

home > main_programme > main_programme_vX

where X should be the newest version of the data release, or the version you are interested in. Once you are inside the relevant version, you will be able to see a list of Data Views(datasets) divided into categories:

• Quick View
• Common
• Bioinformatics
• Long Read Sequencing
• Cancer
• Rare Disease
• Secondary Data
  • NHSE
  • NCRAS
  • Mental Health
  • Cancer Specific Curated Datasets - Pilot
• Research Community provided data

The same tables are also listed under Lists in alphabetical order.