Genomic medicine is already helping more people receive answers about their health conditions through better diagnosis, treatment, and support. By volunteering to take part in research, you'll be making a difference to NHS patients and the future of genomic medicine.
This research aims to improve our understanding of human genetic variation and the processes that shape it, such as demography, ancestry, natural selection and genetic mutation. It also aims to elucidate the genomic contribution to disease and health in the population, and to inform diagnosis, treatment and the potential impact of interventions.
Dr Aylwyn Scally
University of Cambridge
Professor Jean-Baptiste Cazier
Francis Crick Institute
This research aims to improve our understanding of human genetic variation and the processes that shape it, such as demography, ancestry, natural selection and genetic mutation. It also aims to elucidate the genomic contribution to disease and health in the population, and to inform diagnosis, treatment and the potential impact of interventions.
Dr Aylwyn Scally
University of Cambridge
Professor Jean-Baptiste Cazier
Francis Crick Institute
The impact of collecting and using patient data isn't always straightforward, so we're always listening to public opinion and leading the ethics debate.
Watch this short video on the public dialogue around screening the whole genomes of newborns.
The NHS Genomic Medicine Service (GMS) Research Collaborative is a partnership between the NHS GMS, Genomics England and the National Institute of Health Research (NIHR) to support genomic research and development on a national scale.
Challenging our understanding of B-cell lymphomagenesis and risk: Paediatric high-grade B-cell lymphoma, not otherwise specified with a DDX3X::MLLT10 fusion and an IGH deletion
Lucy Hare, Jamie Trotman, Patrick Tarpey, et al.
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4
Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, et al.
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme
Alona Sosinsky, John Ambrose, William Cross, et al.
