NIHR BioResource: Whole Genome Sequencing

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 Gut Reaction, the Health Data Research Hub for IBD; 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.