CHICAGO (GenomeWeb) – Genomics England will use Edico Genome's technology to help improve the accuracy and consistency of its analysis of next-generation sequencing data for rare diseases.
As it works to make NGS a standard of care in the UK National Health Service this year, Genomics England has implemented Edico's Dragen Bio-IT platform to address alignment and variant calling of whole-genome sequencing data. Edico made the announcement today at the annual J.P. Morgan Healthcare Conference in San Francisco.
Genomics England said it has begun using the Dragen system to reprocess 5,000 whole genomes from patients with rare diseases against the GRCh38 reference genome. The organization, which runs the UK's 100,000 Genome Project, originally aligned the sequences to the older GRCh37 reference genome.
Once the reprocessing is complete, Genomics England will make the updated data sets available to pharmaceutical companies and other interested parties through the Discovery Forum, a collaboration platform for genomics researchers in the UK. Edico, which is based in the US, said it has joined the 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," Joanne Hackett, chief commercial officer at Genomics England, said in a statement.