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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 ...

Before we dive into variants of uncertain significance, it is first useful to understand the term ‘gene’. A gene is a section of DNA that contains a specific instruction about how we develop, function ...

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 ...

At Genomics England, we hold data for over 15,000 participants with cancer in the National Genomic Research Library (NGRL). Whole genome sequencing for these participants can lead to improvements in ...