Genomics England Uses DRAGEN Pipeline To Re-Analyze 5000 Whole Genomes

January 8, 2018

By Bio-IT World Staff

January 8, 2018 Genomics England is currently using Edico Genome’s DRAGEN analysis pipeline to re-process 5,000 whole human genomes from individuals with rare diseases. Genomics England and Edico announced the partnership today at the annual J.P. Morgan Healthcare Conference. 

The genomes were originally mapped and aligned on reference genome GRCh37, but an updated human reference genome has since been released, GRCh38, which offers increased accuracy and consistency of results. These re-processed datasets will be provided to pharma and industry partners for additional analysis through the Discovery Forum, a platform for collaboration and engagement between Genomics England, industry partners, academia, the NHS and the wider U.K. genomics landscape. In conjunction with the announcement, Edico Genome has joined Discovery Forum.

“Working with Edico Genome, Genomics England moves one step closer to reaching genomic medicine’s full potential and improving the efficiency of whole-genome analysis to help diagnose rare diseases,” said Joanne Hackett, chief commercial officer at Genomics England, in a statement. “This partnership demonstrates our commitment to harnessing the most innovative technologies in the world to maximize patient benefit.”

 “Genomics England is truly paving the way for the widespread integration of whole-genome sequencing on a population scale, bringing the future of personalized medicine into the now for individuals across the U.K.,” said Pieter van Rooyen, Ph.D., president and CEO at Edico Genome, in the same statement. “Our bioinformatics and engineering teams are committed to pushing the envelope in terms of accuracy, sensitivity, speeds, and scalability to ensure the highest level of personalized care can be delivered in a timely, cost effective, and economical manner. We are honored to be able to assist in such an important undertaking—helping diagnose rare diseases—and look forward to bringing further optimizations and new pipelines to customers in 2018.”