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Informatics workshop lays ground for genome clinical diagnostic service in Scotland

"One of the strengths of the Scottish genomics community is a strong sense of joint ownership and collaboration. We have a highly skilled group of computational genome experts and they are helping to upskill the NHS Scotland workforce for genome analysis and interpretation."

Professor Zosia Miedzybrodzka, Chief Investigator, SGP Genomics of Rare Disease

8th December 2017

Scottish Genomes Partnership informatics workshop

The Scottish Genomes Partnership held a vital workshop which brought together NHS scientists, clinical genetics specialists and University bioinformaticians from Scotland, as well as experts from England and Sweden, to explore ways to build capacity for genome-scale analysis and clinical interpretation within NHS Scotland.

Scottish Genomes Partnership, Informatics, Data Science

SGP team members from around Scotland, pictured together with workshop speakers from England and Sweden

In the SGP research project, genome sequencing is carried out in Scotland by Edinburgh Genomics, and data are sent to Genomics England for analysis and interpretation. Clinical reports are returned to Scottish laboratories for validation before feedback is given to patients and their families. Scotland already has the skills and expertise within its academic research teams to deliver genomic analysis and interpretation locally, so this workshop explored what is required to harness this academic expertise to deliver a fast and effective genomic interpretation pipeline for NHS Scotland.


The workshop explored the strategies being used by Genomics England (working with clinical interpretation partners) and other projects such as a trio exome clinical diagnostic service in Exeter, and a large scale whole genome sequencing in Sweden.

The group then discussed next steps required for Scotland.

Scottish Genomes Partnership informatics workshop
Scottish Genomes Partnership informatics workshop
Scottish Genomes Partnership informatics workshop
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