New research using data from the 100,000 Genomes Project has identified a genetic change that drives osteosarcoma, an ...

In this episode, our guests explore the impact of genetic discoveries on inherited retinal dystrophies, in particular retinitis pigmentosa (RP). The discussion highlights a recent study that ...

There are thousands of potential conditions that can be tested for through genome sequencing. It was important for us to carefully consider which conditions should be looked for in the Generation ...

PanelApp is one of the most extensive publicly available knowledge bases of gene-disease associations and is maintained by the Genomics England Biocuration Team. Finding scientific publications ...

In this series, ‘Genomics 101’, we go back to basics and explore some of the most important topics in genomics. In this blog, we explain the term ...

When someone visits our website, we may collect a few bits of information and store them in files called cookies. This page outlines how we use cookies across our site. Our site uses a few cookies but ...

Genomics England began as a vessel to execute the UK Government's bold plan to sequence 100,000 whole genomes and incorporate genomic medicine into routine care in the NHS, a feat we achieved in 2018 ...

The Genome Analysis team at Genomics England are working to develop cutting-edge genome analysis approaches to apply in the clinic. They aim to enable world-leading personalised healthcare that is ...

In this explainer episode, we’ve asked John Pullinger, Senior Bio Sample Operations Manager at Genomics England, to explain what it means to go on a diagnostic odyssey. You can also find a series of ...