Version: 19.0.2 | Published: 23 Jan 2026 | Updated: 33 days ago
Summary
Documentation
Associated Media:
Description:
Rare Disease data are presented at the level of Rare Disease families (families of probands), Rare Disease pedigrees, and participants. Participants are individuals who have consented to be part of the project with the expectation that a sample of their DNA will be obtained and their genome sequenced. Pedigree members are extended members of the proband’s family, this includes participants as well a small amounts of deidentified data recorded to allow a full picture of the proband’s extended family. This additional information is extracted from the proband’s medical record.
Coverage
Spatial:
UK
Typical Age Range Min:
0
Typical Age Range Max:
150
Material Type:
DNA
Follow Up:
Other
Pathway:
Linked datasets cover secondary care.
Provenance
Origin
Purpose:
- Care
- Study
- Other
Dataset Type:
Health and disease
Source:
- EPR
- Electronic survey
- LIMS
- Other
Collection Source:
- Clinic
- Secondary care - Outpatients
- Secondary care - In-patients
Temporal
Publishing Frequency:
Quarterly
Distribution Release Date:
30 March 2023
Start Date:
01 January 2014
End Date:
01 January 2019
Time Lag:
2-6 months
Accessibility
Access
Access Rights:
Access Service:
More information about the Genomics England Research Environment can be found
here: https://www.genomicsengland.co.uk/research 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.
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
Delivery Lead Time:
2-6 months
Data Controller:
GENOMICS ENGLAND
Data Processor:
GENOMICS ENGLAND
Jurisdiction:
Great Britain
Usage
Data Use Limitation:
General research use
Data Use Requirements:
- Ethics approval required
- Project-specific restrictions
- Publication moratorium
Resource Creator:
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 the publication policy.
Format and Standards
Vocabulary Encoding Scheme:
- OPCS4
- SNOMED CT
- HPO
- OTHER
Conforms To:
OTHER
Language:
English
Format:
Multiple Formats Available
Enrichment and Linkage
Derived From
PID
Title
URL
Not Known
Linkable Datasets
PID
Title
URL
Observations
Statistical Population
Population Description
Population Size
Measured Property
Observation Date
Findings
Rare Disease - Number of genomes
73517
Count
30 March 2023
Findings
Cancer Tumour - Number of genomes
17003
Count
30 March 2023
Findings
Cancer Germline - Number of genomes
32753
Count
30 March 2023
Persons
Cancer Participants
15624
Count
30 March 2023
Persons
Rare Disease Participants
72874
Count
30 March 2023
Origin
Name:
Data Catalogue