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Genomics England - Common

Population Size

Not reported

Years

2012 - 2022

Associated BioSamples

None/not available

Geographic coverage

Not reported

Lead time

2-6 months

Summary

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.

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.
Dataset type
Health and disease
Dataset sub-type
Not applicable

Keywords

Genomics, DATA-CAN, Genome, Common, Rare Disease, Cancer

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

Patient pathway description
Linked datasets cover secondary care.
Image contrast
Not stated
Biological sample availability
None/not available

Structural Metadata

Details

Publishing frequency
Quarterly
Version
17.0.0
Modified

08/10/2024

Distribution release date

30/03/2023

Citation Requirements
The 100;,;000 Genomes Project Protocol v3;,;Genomics England. doi:10.6084/m9.figshare.4530893.v3. 2017. Publications that use the Genomics England Database should include an author as: Genomics England Research Consortium. Please see publication policy.

Coverage

Start date

01/01/2012

End date

31/12/2022

Time lag
2-6 months
Maximum age range
150
Follow-up
Other

Accessibility

Language
en
Controlled vocabulary
READ, OTHER, SNOMED CT, LOCAL, NHS NATIONAL CODES, ICD10, OPCS4, ODS
Format
Multiple formats available

Data Access Request

Dataset pipeline status
Not available
Time to dataset access
2-6 months
Access request cost
Fees will be dependent on the type of access that is necessary. Raw data is not eligible for export. Summary-level data may be exported provided that it is approved through the Genomics England Airlock Process
Access service description

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.

Jurisdiction
GB-GBN
Data Controller
GENOMICS ENGLAND
Data Processor
GENOMICS ENGLAND

Dataset Types: Health and disease


Collection Sources:

Relationships: