Bookmarks
Genomics England - Common
Population Size
Years
2012 - 2022
Associated BioSamples
None/not available
Geographic coverage
Lead time
2-6 months
Summary
Documentation
Data views that are common to both the rare disease and the cancer domains. This data pertains to sample handling, genome sequencing, and participant data.
Data Relating to Participants:
- participant: Data on each individual participant in the 100,000 Genomes Project, e.g. personal information (such as relatives or self-reported ethnicity); points of contact with the Project (e.g. handling Genomic Medicine Centre or Trust); and a record of the status of their clinical review.
- death_details: Data on participant deaths submitted by GMCs, likely less complete than the data collected by ONS and NHSE.
Data Relating to Samples:
- clinic_sample: Data describing the taking and handling of participant samples at the Genomic Medicine Centres, i.e. in the clinic, as well as the type of samples obtained. Because of the complexities of handling and managing tumour tissues samples in a clinical setting, there are many fields that are cancer-specific.
- clinic_sample_quality_check_result: Data describing the quality control of obtaining and handling participant samples at the Genomic Medicine Centres, i.e. in the clinic.
- laboratory_sample: Data describing the handling of samples at the biorepository and in preparation for sequencing, as well as the type of sample.
- plated_sample: Data describing the handling and QC of samples at Illumina (the sequencing provider).
- laboratory_sample_omics_availability: Availability of samples collected from participants in the 100,000 Genomes Project for the purpose of omics research. Data includes: Participant ID, Sample Type (e.g. Serum, RNA Blood), the number of aliquots of that sample type for that participant, and the availability status - whether the sample has already been used for a research project. Research proposals for the use of these samples can be submitted, via the GECIP team, to the Scientific Advisory Committee and Access Review Committee.
Keywords
Observations
Observed Node | Disambiguating Description | Measured Value | Measured Property | Observation Date |
---|---|---|---|---|
Persons | Cancer Tumour - Number of genomes | Not reported | Count | 01 Jan 1970 |
Persons | Rare Disease Participants | Not reported | Count | 01 Jan 1970 |
Persons | Cancer Germline - Number of genomes | Not reported | Count | 01 Jan 1970 |
Persons | Cancer Participants | Not reported | Count | 01 Jan 1970 |
Persons | Rare Disease - Number of genomes | Not reported | Count | 01 Jan 1970 |
Provenance
Structural Metadata
Details
08/10/2024
30/03/2023
Coverage
01/01/2012
31/12/2022
Accessibility
Data Access Request
More information about the Genomics England Research Environment can be found here:
https://www.genomicsengland.co.uk/about-genomics-england/research-environment/ https://research-help.genomicsengland.co.uk/display/GERE/1.+The+Genomics+England+Research+Environment
Genomics England 100k participants have consented to longitudinal lifetime followup and recontact safely through our clinical network. BRST (Bioinformatics Research Services) are a team of bioinformatics who know the dataset inside out and provide consultancy projects on a case by case basis. Our network of clinical and medical experts can be made available on case by case basis. Researchers have the opportunity to work with our and access the GeCIP network who are a community of world-leading experts in specific cancers and rare diseases.