- Genomics England’s 100,000 Genomes Project has sequenced more than 100,000 whole genomes of rare disease and cancer participants and their families and paved the way for the establishment of the NHS Genomic Medicine Service.
- With a focus on multimodal data, Genomics England has a rich data set consisting of whole genome sequences linked to ever-expanding clinical and phenotypic data captured longitudinally across the participant’s life-course. This data is made available to researchers across the globe through a secure Research Environment and has delivered successful collaborations through our active community of academic and clinical KOLs and industry partners. The recently released 78,000 genome aggregate file is one of the largest fully annotated sets of accessible genomes in the world.
- Genomics England has built a biobank of tumour, extracted DNA and additional multi-omics samples which are available for research projects, enabling technology comparisons and generating evidence for commissioning support. An advanced bioinformatics and interpretation pipeline enables analysis of rare and common variants and continued diagnostic discovery and clinical collaboration endeavours to return actionable findings to participants.