100,000 Genomes Project

Rare Disease collaboration with the
Genomics England 100,000 Genomes Project
Recruitment to this study has finished and analysis is underway.
Project participants for Scottish participation in the 100,000 Genomes Project who want to find out about the status of their results should contact their local genetics clinic as we do not have this information.
One thousand participants were recruited from all over Scotland through the nationally designated NHS Scotland genetics clinics in Aberdeen, Dundee, Edinburgh and Glasgow. Staff at these sites provide genetics services in other NHS Scotland Board areas.
Eligible participants (see next slide) were approached through their clinical geneticist or other hospital consultant.
Clinicians in other specialties discussed referral of potentially suitable patients with colleagues in the local clinical genetics team.
Meet the Team
Chief Investigator & Clinical Lead, NHS Grampian
Project Manager University of Aberdeen
SGP Project Manager University of Edinburgh
Scientific Lead NHS Greater Glasgow & Clyde
Co-PI SGP University of Edinburgh
Facility Manager Edinburgh Genomics University of Edinburgh
Divisional Director NHS National Services Division
Clinical Lead NHS Tayside
Clinical Lead NHS Lothian
Clinical Lead NHS Greater Glasgow & Clyde
Genetic Counsellor NHS Grampian
Research Nurse NHS Tayside
Clinical Research Associate NHS Lothian
Genetic Counsellor NHS Greater Glasgow & Clyde
Lab Lead NHS Lothian
Lab Lead NHS Grampian
Research Scientist NHS Grampian
Lab Lead NHS Tayside
Research Scientist NHS Tayside
Lab Lead NHS Greater Glasgow & Clyde
Clinical Scientist NHS Greater Glasgow & Clyde
SGP Informatics Lead University of Edinburgh
Bioinformatician University of Edinburgh
Translational Bioinformatician University of Edinburgh NHS Lothian
IT Project Manager