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NIHR IBD BioResource: SNP chip data

Population Size

Not reported

Years

2016

Associated BioSamples

DNA

Plasma

Geographic coverage

United Kingdom

Lead time

Not applicable

Summary

In order to do recall by genotype, participants have their DNA tested using one the SNP chip arrays from eg. Illumina and Affymetrix (now Thermosfisher). The current iteration is the UK Biobank v2.1 from Thermofisher, which measures ~820k markers.

Documentation

The NIHR IBD Bioresource comprises ~34k participants with Inflammatory Bowel Disease (IBD). The NIHR IBD BioResource extracts DNA from blood and saliva samples taken at recruitment, and measures a panel of SNPs on each DNA sample, using a commodity SNP genotyping array from e.g. Illumina or Affymetrix (now Thermofisher). This is used to pre-screen or match participants when inviting them to take part in experimental medicine studies. De-identified versions of this data is available to researchers investigating the feasibility of future studies. The Technical Metadata describes a SNP annotation file – i.e. what the chip is measuring. The file itself has as many rows as there are SNPs represented on the chip, and is proprietary to the manufacturer, although deeply familiar to researchers.
Dataset type
Health and disease, Omics
Dataset sub-type
Oral and gastrointestinal

Keywords

IBD, Crohn's, colitis, recall, SNP chip, Thermofisher, cohort discovery

Observations

Observed Node
Disambiguating Description
Measured Value
Measured Property
Observation Date

Events

SNP genotyping array chips processed

11787

Count

01 Sep 2021

Events

Approximate number of variants on a SNP chip

780000

COUNT

01 Sep 2021

Provenance

Purpose of dataset collection
Study
Source of data extraction
Machine generated
Collection source setting
Other
Image contrast
Not stated
Biological sample availability
DNA,Plasma,Serum

Structural Metadata

Details

Publishing frequency
Quarterly
Version
4.0.0
Modified

08/10/2024

Distribution release date

31/03/2021

Citation Requirements
NIHR BioResource. Acknowledgement text: "We thank NIHR BioResource volunteers for their participation, and gratefully acknowledge NIHR BioResource centres, NHS Trusts and staff for their contribution. We thank the National Institute for Health Research, NHS Blood and Transplant, and Health Data Research UK as part of the Digital Innovation Hub Programme. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health and Social Care."

Coverage

Start date

13/01/2016

Time lag
2-6 months
Geographic coverage
United Kingdom
Minimum age range
18
Maximum age range
85
Follow-up
1 - 10 Years

Accessibility

Language
en
Controlled vocabulary
OTHER
Format
text/plink, text/vcf

Data Access Request

Dataset pipeline status
Not available
Time to dataset access
Not applicable
Access method category
TRE/SDE
Access service description
Some de-identified data may be released to researchers in a platform-independent filetype (e.g. CSV). However, access to any data acquired via NHS Digital is subject to strict restrictions governing where data may be accessed and from which locale - access in a Trustworthy Research Environment (TRE) at AIMES secure data centre (https://aimes.uk/). It is also intended that SNP data be available from the European Genome-Phenome Archive (EBI's EGA) via managed access - https://ega-archive.org/
Jurisdiction
GB-GB
Data use limitation
Research use only
Data use requirements
Institution-specific restrictions,Project-specific restrictions,Return to database or resource,Time limit on use,User-specific restriction
Data Controller
Cambridge University Hospitals NHS Foundation Trust (CUH)
Data Processor
Data processors are NIHR BioResource staff, others with Letters of Access to CUH and approved members of staff at the data centre (AIMES, https://aimes.uk/)

Dataset Types: Health and disease, Omics

Dataset Sub-types: Oral and gastrointestinal


Collection Sources: Other

Relationships: