Version: 17.0.0 | Published: 30 Oct 2023 | Updated: 570 days ago
Documentation
Associated Media:
Description:
Quickviews bring together data from several LabKey tables for convenient access, including:
rare_disease_analysis Data for all rare disease participants including: sex, ethnicity, disease recruited for and relationship to proband; latest genome build, QC status of latest genome, path to latest genomes and whether tiering data are available; as well as family selection quality checks for rare disease genomes on GRCh38, reporting abnormalities of the sex chromosomes, family relatedness, Mendelian inconsistencies and reported vs genetic sex summary checks. Please note that only sex checks are unpacked into individual data fields; a final status is shown in the “genetic vs reported results” column.
cancer_analysis Data for all cancer participants whose genomes have been through Genomics England bioinformatics interpretation and passed quality checks, including: sex, ethnicity, disease recruited for and diagnosis; tumour ID, build of latest genome, QC status of latest genome and path to latest genomes; as well file paths to the genomes. This table includes information derived from laboratory_sample and cancer_participant_tumour.
Is Part Of:
100K Primary Data
Coverage
Spatial:
UK
Typical Age Range:
0-150
Follow Up:
OTHER
Physical Sample Availability:
DNA
Pathway:
Linked datasets cover secondary care.
Provenance
Origin
Purposes:
- CARE
- DISEASE REGISTRY
- OTHER
Sources:
- ELECTRONIC SURVEY
- EPR
- LIMS
- MACHINE GENERATED
Collection Situations:
- CLINIC
- IN-PATIENTS
- OUTPATIENTS
Temporal
Accrual Periodicity:
QUARTERLY
Distribution Release Date:
30 March 2023
Start Date:
01 January 2012
End Date:
31 December 2022
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:
2-6 MONTHS
Jurisdictions:
GB-GBN
Data Controller:
GENOMICS ENGLAND
Data Processor:
GENOMICS ENGLAND
Usage
Data Use Limitations:
GENERAL RESEARCH USE
Data Use Requirements:
- ETHICS APPROVAL REQUIRED
- PROJECT SPECIFIC RESTRICTIONS
- PUBLICATION MORATORIUM
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.
Is Referenced By:
Format and Standards
Vocabulary Encoding Schemes:
- LOCAL
- ICD10
- NHS NATIONAL CODES
- ODS
- OPCS4
- READ
- SNOMED CT
- OTHER
Languages:
en
Formats:
Multiple Formats Available
Enrichment and Linkage
Qualified Relations:
- HES Accident and Emergency
- HES Outpatient Care
- Diagnostic Imaging Dataset (DID)
- Patient Reported Outcome Measures (PROMs)
- Cancer Registration (AV) tables
- HES Admitted Patient Care
- Cancer waiting times (CWT)
- Lung Cancer Data Audit (LUCADA)
- PHE Diagnostic Imaging Dataset (NCRAS_DID)
- Systemic Anti-Cancer Therapy Data Set (SACT)
- Office for National Statistics - Death details data (ONS)
- National Radiotherapy Dataset (RTDS)
- Mental Health Minimum Data Set (MHMDS)
Derivations:
Not Known
Observations
Statistical Population
Population Description
Population Size
Measured Property
Observation Date
Findings
Rare Disease - Number of genomes
73,517
Count
30 March 2023
Findings
Cancer Germline - Number of genomes
32,753
Count
30 March 2023
Findings
Cancer Tumour - Number of genomes
17,003
Count
30 March 2023
Persons
Cancer Participants
15,624
Count
30 March 2023
Persons
Rare Disease Participants
72,874
Count
30 March 2023
Origin
Name:
Data Catalogue