Scottish Genomes Partnership Workshop
August 2016: The Scottish Genomes Partnership brought together key people to focus on Genomic Medicine collaborations across the UK including GeL and NHS Clinical Genetics laboratories.
On 30th August Professor Tim Aitman, Director of the Centre for Genomic and Experimental Medicine, held a highly successful meeting to bring together key people involved with the Scottish Genomes Partnership from across Scotland.
As well as Tim Aitman, participants from IGMM included Wendy Bickmore (Director, MRC Human Genetics Unit), David FitzPatrick (Head of Disease Mechanisms), Colin Semple (Head of Bioinformatics) and David Porteous (Professorial Fellow).
The session focused on Scottish participation in the Genomics England 100,000 Genomes Project, which is funded through a grant from MRC and the Scottish Government’s Chief Scientist Office. As background, participants heard from Edinburgh Genomics and the University of Glasgow Translational Research Centre about the excellent progress that has been made establishing their HiSeqX facilities for whole genome sequencing. David FitzPatrick gave a particularly helpful perspective based on his experiences sequencing 93 genomes from families with eye malformation and severe neurodevelopmental phenotypes. His presentation shared the process, from case identification and consent through to first line analysis; he said that he had been impressed by the quality of data obtained and ease of analysis.
The discussion moved on to consider the progress made with the Genomics England collaboration, particularly around informatics, data storage, NHS genomics IT and the validation of genomic reports through the NHS Clinical Genetics laboratories. However it was recognised that this was pioneering work and there were still challenges ahead.
Overall the session was engaging and lively, and was agreed by all to have been very useful indeed: a number of key decisions were made and important actions taken forward. Participants commented that the very act of bringing together this group of people from across Scotland was a catalyst for future collaborative working and development of genomic research in Scotland.
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