The 100,000 Genomes Project is up and running in the United Kingdom. And with the population-scale sequencing drive having already made breakthroughs in identifying rare diseases, Genomics England has handed out $12 million to bolster its data analysis capabilities.
Genomics England split the money between 5 companies, each of which is developing technologies that could help the U.K. get the most out of the huge pool of data it is starting to generate. Congenica snagged $3 million--the largest figures of those revealed publicly--to advance technology to identify single-gene mutations in whole-genome sequencing data. Seven Bridges Genomics received almost as much to build a graph reference genome and the tools to use the resource.
Collectively, the awards are intended to help Genomics England extract more information from data in a shorter period of time and provide a boost to U.K. genome sequencing interpretation startups. "We believe that there is now a critical mass of medical bioinformatics translational activity in the U.K. that puts the U.K. in a good position to be a leader in the global market for genomic analysis services," Professor Tim Hubbard, head of genome analysis at Genomics England, said in a statement.
News of the awards coincided with the release of details of early breakthroughs by the 100,000 Genomes Project. The sequencing drive has already diagnosed two rare diseases, potentially helping families that were afflicted by mystery ailments to receive better care. Such diagnoses are expected to make up the first wave of benefits resulting from the sequencing push, after which longer-term gains linked to the use of the data in drug discovery will start to come into play.
- read Genomics England's release
- check out Congenica's news
- here's Seven Bridges' post
- and details of the diagnoses