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 The NIHR Bioresource consists of several groups of participants: ~70k from the general population and blood donors (COMPARE, INTERVAL and STRIDES studies); ~19k with one of ~50 rare diseases (RD) including a ~5k pilot for GEL; ~30k with Inflammatory Bowel Disease (IBD) which include the members of the HDR UK IBD Hub; and ~20k with Anxiety or depression (GLAD study). It intends to extend recruitment in all areas, and to other rare and common disease groups, with a target of ~300k by 2022. The NIHR BioResource ran the pilot for GEL's 100,000 Genomes Project. Most of the participants with rare diseases were recruited on the basis of having no known diagnosis, and have had extensive work upon WGS data, including reporting to the clinical team.

Webpage:
https://www.healthdatagateway.org/dataset/fbad23e8-5079-4f11-b8b7-aaa01c0fbc4b

Licence:
Name: HDR UK Innovation Gateway Access
URL: https://www.hdruk.ac.uk/infrastructure/gateway/terms-and-conditions/

Tags:

wgs genome sequencing gel

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