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Genomics England - Quick View

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 bring together data from several LabKey tables for convenient access.

Documentation

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.

Dataset type
Health and disease
Dataset sub-type
Not applicable

Keywords

DNA, Dataset, Genomics, DATA-CAN, Data, Genome, Cancer, Rare Disease

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 the 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: