Abstract

In this talk I will give an overview of the UK’s 100,000 genomes project and its current status. I will then focus on two mayor areas from a bioinformatics perspective: data challenges and interpretation in rare diseases. I will discuss how three types of databases are required to enhance genome interpretation and enable research: a large-scale database of genotypes and phenotypes, a database of interpretation findings and a database of genotype to phenotype assertions. I will present the developments we have performed in these areas and discuss some of the remaining challenges. I will then discuss the work we have been doing to support diagnosis in families with rare diseases. I hope that I will be able to convey the immense potential this program has for translating state of the art research into improved patient care and encourage people to join our clinical and academic partnerships.