Scottish sequencing complete

for 100,000 Genomes Project

"Edinburgh Genomics has provided a fantastic service, working seamlessly with the NHS Scotland laboratories to produce high quality whole genome data with no sampling errors."

Professor Zosia Miedzybrodzka, SGP Genomics of Rare Disease Project Lead

and Professor of Medical Genetics at the University of Aberdeen

6th December 2018

Final Scottish sequence data pass Edinburgh Genomics Quality Control 

Edinburgh Genomics Clinical Division is delighted to announce today that it has completed all the whole genome sequencing (1000 genomes) for Scottish participation in the 100,000 Genomes Project. This is a major milestone for the Scottish part of the project and will ensure that all data analysis and interpretation for the study can be completed as planned.

The announcement comes one day after Genomics England announced the completion of its own sequencing of 100,000 Genomes since 2013.

Earlier this year Genomics England congratulated the Scottish team for the quality of the data being produced by the Edinburgh facility, with no sample swaps or data entry errors, which they said was a major achievement when entering such complex information, and not accomplished by any other centre in the study. The team is proud of this track record, which is a reflection of the many systems and processes which have been put in place across the entire project (some new, some existing) by the NHS Scotland genetics clinic, laboratories and Edinburgh Genomics to ensure accurate flow of samples from patient to sequencer.

Dr Sandi Deans (Director, UK NEQAS for Molecular Pathology) emphasised the success of the Scottish approach saying, “the view in England is that the Scottish system is a high quality, good approach – well done!”

Whole genome sequence data has been generated by Edinburgh Genomics Clinical Division, led by Dr Javier Santoyo-Lopez

Data analysis and clinical interpretation for the Scottish participants is underway at Genomics England, including comparisons with data from more than 70,000 other participants (so far) from across the UK. The first clinical results have been fed back in Scotland and further pilot analysis is also happening locally through University experts.

© 2019 Scottish Genomes Partnership

Scottish Genomes Partnership gratefully acknowledges the funding received from the Chief Scientist Office of the Scottish Government Health Directorates and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative.