Investigating Genetic Variants on a Large Scale in Large Population Studies and Country Genome Projects
The Genomics England’s 100,000 Genomes Project is a ground-breaking, country sequencing program that focuses on cancer and rare diseases. It is the largest and most prestigious population genome sequencing project of its kind. Fabric’s Genomics’ Clinical tool has delivered more than 1,200 clinical reports for the 100,000 Genomes Project, as of October 2017. These interpretive reports may contain actionable information to enable a better understanding of a patient’s disease and can potentially impact patient treatment. Fabric Genomics’ software is implemented within Genomics England’s secure data center and delivers reports to the Genomic Medicine Centers from this hosted center, located in the UK. The 100,000 Genomes Project is currently the largest genome sequencing project of its kind in the world and through this partnership, Fabric Genomics is enabling Genomics England to scale actionable results. See the ACMG scientific poster from March 2017 here.
“Fabric Genomics’ technology and expertise help us to achieve our mission of interpreting genomic data on an industrial scale. We are very grateful for the team’s fast turnaround times and support, which means that NHS clinicians and patients in the 100,000 Genomes Project can be provided with meaningful clinical information.”
–Dr. Damian Smedley, Director of Genomic Interpretation at Genomics England