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Genomics England - Long Read Sequencing
Population Size
Years
2012 - 2022
Associated BioSamples
None/not available
Geographic coverage
Lead time
2-6 months
Summary
Documentation
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.
Keywords
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
Structural Metadata
Details
08/10/2024
30/03/2023
Coverage
01/01/2012
31/12/2022
Accessibility
Data Access Request
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.