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.
The research of this community will seek to identify novel variant-trait associations and identify where such genotypic information can be leveraged for clinical application; such as the provision of polygenic risk scores and development of screening and treatment strategies. Particular attention will be given to the analysis of ancestries underrepresented in genomic research. This community will implement and improve tools for such analyses.
Professor Diana Baralle
University of Southampton
Dr Gavin Arno
UCL
The research of this community will seek to identify novel variant-trait associations and identify where such genotypic information can be leveraged for clinical application; such as the provision of polygenic risk scores and development of screening and treatment strategies. Particular attention will be given to the analysis of ancestries underrepresented in genomic research. This community will implement and improve tools for such analyses.
Professor Diana Baralle
University of Southampton
Dr Gavin Arno
UCL
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.
