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NIHR BioResource: Whole Genome Sequencing

The NIHR BioResource ran the pilot for GEL's 100,000 Genomes Project. Most of the participants with rare disease were recruited on the basis of having no known diagnosis, and have had extensive work up on WGS data, including reporting to the clinical team

Description

More detailed information about this field from each metasource.

The NIHR BioResource ran the pilot for GEL's 100,000 Genomes Project. Most of the participants with rare disease were recruited on the basis of having no known diagnosis, and have had extensive work up on WGS data, including reporting to the clinical team

metasource: HDR UK
version: extracted_at: 2022-09-05T08:28:24.125862

Webpage:

https://www.healthdatagateway.org/dataset/7b922498-1757-418d-96ca-64980a50b647

Webpage

More detailed information about this field from each metasource.

https://www.healthdatagateway.org/dataset/7b922498-1757-418d-96ca-64980a50b647

metasource: HDR UK
version: extracted_at: 2022-09-05T08:28:24.125862

Licence:

Name: HDR UK Innovation Gateway Access

Licence name

More detailed information about this field from each metasource.

HDR UK Innovation Gateway Access

metasource: HDR UK
version: extracted_at: 2022-09-05T08:28:24.125862

URL: https://www.hdruk.ac.uk/infrastructure/gateway/terms-and-conditions/

Licence URL

More detailed information about this field from each metasource.

https://www.hdruk.ac.uk/infrastructure/gateway/terms-and-conditions/

metasource: HDR UK
version: extracted_at: 2022-09-05T08:28:24.125862

Tags:

Tags
More detailed information about this field from each metasource.

WGS
metasource: HDR UK
version: extracted_at: 2022-09-05T08:28:24.125862

Genome
metasource: HDR UK
version: extracted_at: 2022-09-05T08:28:24.125862

Sequencing
metasource: HDR UK
version: extracted_at: 2022-09-05T08:28:24.125862

GEL
metasource: HDR UK
version: extracted_at: 2022-09-05T08:28:24.125862

wgs genome sequencing gel

More to explore:

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NIHR BioResource: Demographic

The NIHR BioResource acquires broad demographics – e.g. age, sex, ethnicity - from participants at recruitment. This is used to pre-screen or match participants when inviting them to take part in exp ...

NIHR BioResource: Returned datasets

The NIHR BioResource asks those collecting data on participants as part of sample-only or recall studies to offer data for re-use by others. These offers may be taken up in future.

NIHR BioResource: Contact detail

The NIHR BioResource acquires contact details - name, address, email address, phone/mobile number - from participants at recruitment. This is used to recontact participants to invite them to take part ...

NIHR BioResource: SNP imputation data

SNP chip data can be used to impute many of the (non-rare) SNPs not included on the chips. The NIHR BioResource is using a modified version of the UK Biobank protocol to improve the options for recal ...

NIHR BioResource: Case report form

Each participant recruited on the basis of their disease (rare or common) has a disease-specific CRF completed by their clinical care team. These are non-exhaustive-we have the chance to ask for more ...

NIHR BioResource: Sample holding

NIHR BioResource samples are held at the NIHR National Biosample Centre in Milton Keynes. Metadata on what is available should become available through the UK CRC Tissue Directory, as mandated by Rese ...

NIHR BioResource: Consent records

The NIHR BioResource records consent dates and versions for each and every participant consent event. We also record use of opt-ins and opt-outs including pre-GDPR. This permits us to manage data rel ...

NIHR BioResource: Metabolite data

Some of the general population participants have had sera or plasma measured for metabolites, using Metabolon technology.

NIHR BioResource: Health and Lifestyle Questionnaire

Most NIHR BioResource participants complete a self-report form on recruitment. Typically this contains e.g. height, weight, smoking history and alcohol consumption, but also includes questions relati ...

GENOMICS ENGLAND 100K RARE DISEASE & COMMON

Rare Disease (RD) data are presented at the level of RD families, RD pedigrees, and participants. Participants are consenting individuals who have had their genome sequenced. Pedigree members are exte ...

GENOMICS ENGLAND 100K CANCER & COMMON

Cancer data are presented for either the patient level cancer diagnosis or “disease type” or the tumour specific sample details of participants in the Cancer arm of the 100,000 Genomes Project. Data ...

Wellcome Sanger Institute: Whole Exome Sequencing

There is a substantial overlap between the NIHR IBD BioResource and the IBD UK Genetics Consortium (IBDGC). The NIHR BioResource provides some DNA samples. IBDGC data is being provided by the Wellcome ...

NIHR BioResource: NHS Trust data

Data received as part of the HDR UK Sprint Exemplar project, on up to 1600 participants with one of 3 rare diseases (BPD, PAH, PID) at one of the 5 NHS Trusts (Cambridge, Leeds, Liverpool, Newcastle a ...

CMDB

Chinese Millionome Database (CMDB), a database that contains 9.04 million single nucleotide variants (SNV) with allele frequency information derived from low-coverage (0.06×–0.1×) whole-genome sequenc ...

NIHR IBD BioResource: Sample holding

NIHR IBD BioResource samples are held at the NIHR National Biosample Centre in Milton Keynes. Metadata on what is available should become available through the UK CRC Tissue Directory, as mandated by ...

NIHR IBD BioResource: Demographic

The NIHR IBD BioResource acquires broad demographics – e.g. age, sex, ethnicity - from participants at recruitment. This is used to pre-screen or match participants when inviting them to take part in ...

NIHR IBD BioResource: SNP imputation data

SNP chip data can be used to impute many of the (non-rare) SNPs not included on the chips. The NIHR IBD BioResource is using a modified version of the UK Biobank protocol to improve the options for r ...

NIHR IBD BioResource: Contact detail

The NIHR IBD BioResource acquires contact details - name, address, email address, phone/mobile number - from participants at recruitment. This is used to re-contact participants to invite them to take ...

NIHR BioResource: SNP chip data

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 ...

KRGDB

The large-scale variant database of 1722 Koreans based on whole genome sequencing.

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Data is amalgamated and only retrieved periodically.
Some of the resources used by the system:

® FAIRsharing.org
® Bioontology/Bioportal Terms
® Nucleic Acid Research - Database
® re3data.org
® bio.tools
® PubMed - Courtesy of the U.S. National Library of Medicine