Version: 1.0.0 | Published: 8 Oct 2024 | Updated: 228 days ago
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.
All Rare Disease table names are prefixed with “rare_diseases_”.
Data at the Level of Rare Disease Families:
rare_diseases_family:
Data describing the families of rare disease probands participating in the 100,000 Genomes Project. It includes the family group type, the status of the family’s pre-interpretation clinical review and the settings that were chosen for the interpretation pipeline at the clinical review.
rare_diseases_pedigree:
Data describing the Rare Disease participants, linking pedigrees to probands and their family members.
rare_diseases_pedigree_member:
Data describing the Rare Disease pedigree members, similar to the data about each individual participant in the participant table (common data view, see section 8.2). It may also include additional data, such as the age of onset of predominant clinical features; data on links to other family members; as well as data collected only for Phenotypes.
Data at the Level of Rare Disease Participants.
The data presented in these tables provides information on disease progression and pertinent medical history:
rare_diseases_participant_disease:
Data describing the rare disease participants" disease type/subtype assigned to them upon enrolment, and the date of diagnosis.
rare_diseases_participant_phenotype:
Data describing the Rare Disease participants’ phenotypes. For each Rare Disease participant in the 100,000 Genomes Project, there are data about whether a phenotypic abnormality as defined by an HPO term is present and what the HPO term is, as well as the age of onset, the severity of manifestation, the spatial pattern in the body and whether it is progressive or not. Please note that these data are only available for a subset of the rare disease participants.
rare_diseases_gen_measurement:
For Rare Disease participants in the 100,000 Genomes Project, this table contains general measurements relevant to the disease, alongside the date that the measurements were taken on. Please note that these data are only available for a subset of the rare disease participants.
rare_diseases_early_childhood_observation:
For Rare Disease participants in the 100,000 Genomes Project, this table contains measurements and milestones provided by the GMCs, related to childhood development. Please note that these data are only available for a subset of the rare disease participants.
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Coverage
Typical Age Range:
0-150
Follow Up:
Other
Pathway:
Linked datasets cover secondary care.
Provenance
Temporal
Accrual Periodicity:
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 Service:
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.
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:
Not applicable
Jurisdictions:
GB-GBN
Data Controller:
GENOMICS ENGLAND
Data Processor:
GENOMICS ENGLAND
Usage
Resource Creators:
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 Schemes:
- OTHER
- SNOMED CT
- HPO
- OPCS4
Languages:
en
Formats:
Multiple Formats Available
Observations
Statistical Population
Population Description
Population Size
Measured Property
Observation Date
Persons
Cancer Tumour - Number of genomes
-1
Count
01 January 1970
Persons
Rare Disease Participants
-1
Count
01 January 1970
Persons
Cancer Germline - Number of genomes
-1
Count
01 January 1970
Persons
Rare Disease - Number of genomes
-1
Count
01 January 1970
Persons
Cancer Participants
-1
Count
01 January 1970