New research has identified 20 genetic changes in a gene known to cause Marfan syndrome that could help to explain unsolved ...

Genomics England will help deliver the 10 Year Health Plan through our digital systems and by generating the evidence to ...

New research has uncovered 2 neurodevelopmental disorders using data from the National Genomic Research Library. These findings have led to new diagnoses for patients and families, opening doors for ...

The pioneering Yellow Card Biobank, launched by the Medicines and Healthcare products Regulatory Agency (MHRA) and Genomics ...

Genomics England’s 2025 Research Summit welcomed a captivated audience to hear about the latest research and technological innovations from Genomics England, participants, its esteemed research ...

Greater diversity is needed in genetic research to make genomics’ use in cancer care and screening more accurate and reliable for all, according to a new study. The research, led by Genomics England ...

It's hard to believe it's already been a year since I stepped into the Vice Chair role for Rare Conditions on the Participant Panel at Genomics England. Stepping into very large shoes, this past year ...

Genomics England researchers have played a key role in the development of a new artificial intelligence tool, known as SAVANA, that uses long-read sequencing data to find specific changes within a ...

I also pick up development tasks sometimes, such as changes to the APIs (application programming interface – a software that lets 2 different applications talk to each other) that underlie the cancer ...