Genomics England's very first initiative, the 100,000 Genomes Project, has led to the discovery of new diagnoses for participants across a range of rare conditions.
In partnership with the NHS, whole genome sequencing was used to analyse the genomes for every participant in the context of the clinical presentation, combined with knowledge about the genome.
Ten years on, Dr Susan Walker, head of Translational Genomics at Genomics England, discusses their achievement in this article.
