Version: 19.0.2 | Published: 23 Jan 2026 | Updated: 32 days ago
Summary
Documentation
Associated Media:
Description:
Contains tables related to long-reads sequencing data for 100,000 Genomes Project participants.
- lrs_laboratory_sample: Data describing the characteristics and processing methods (DNA to library preparation) of samples from participants in the 100,000 Genomes Project for which long-reads sequencing has been carried out.
- lrs_sequencing_data: This table includes data describing long-read sequencing of a subset of 100,000 Genomes Project participants and associated output, including paths to raw and BAM files.
- cancer_ont_cohorts: Table listing participant ids, sample data, file paths and sequencing statistics for Oxford Nanopore cancer cohorts available in the Research Environment, along with corresponding matched germline and Illumina short reads files where available
- rare_disease_pacbio_pilot: This is a dataset of 91 rare disease samples from the 100k genome project re-sequenced with Pacific Biosciences (PacBio) as an example dataset to to demonstrate the utility of their HiFi technology.
- Rare_disease_ont_cohorts: Genomics England have sequenced 315 rare disease participants with ONT and have generated structural variant calls.
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
- Disease registry
- Other
Dataset Type:
Health and disease
Source:
- EPR
- Electronic survey
- LIMS
- Machine generated
Collection Source:
- Clinic
- Secondary care - Outpatients
- Secondary care - In-patients
Temporal
Publishing Frequency:
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 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 publication policy.
Format and Standards
Vocabulary Encoding Scheme:
- LOCAL
- OPCS4
- READ
- SNOMED CT
- NHS NATIONAL CODES
- ODS
- ICD10
- 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