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.
Research in this community will strive to provide molecular diagnoses for participants by identifying or validating variants that explain previously undiagnosed cases and feeding these discoveries back into clinical practice via the appropriate pathways. New tools and data will be leveraged to tackle challenges and improve of ability to rapidly and reliably identify disease variants.
Professor Sophie Hambleton
Newcastle University
Professor Caroline Wright
University of Exeter
Research in this community will strive to provide molecular diagnoses for participants by identifying or validating variants that explain previously undiagnosed cases and feeding these discoveries back into clinical practice via the appropriate pathways. New tools and data will be leveraged to tackle challenges and improve of ability to rapidly and reliably identify disease variants.
Professor Sophie Hambleton
Newcastle University
Professor Caroline Wright
University of Exeter
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.
