Fig. 1: Overview of the 100,000 Genomes Cancer Programme.

a, Journey of the patient’s genome. Patients provided written informed consent for paired tumor and normal (germline) WGS analysis. DNA was extracted from tumor and normal (blood) samples using standardized protocols and samples were submitted for WGS, which was performed on an Illumina sequencer. An automated pipeline was constructed for sequence quality control, alignment, variant calling and interpretation, with results returned to the 13 NHS Genomic Medicine Centers for review in regional GTABs. b, Linked genomic and real-world clinical datasets. In the 100,000 Genomes Project, participants are followed over their life course using electronic health records (all hospital episodes, cancer registration entries, systemic anticancer therapies and cause of death). c, Infinity loop representing the link between healthcare and research in genomics.