Early research has shown the open-source ExpansionHunter software to be highly accurate in identifying repeat expansions that indicate rare diseases.
Core elements of the new program include integrating genomic data into electronic medical records and the establishment of a national genome center.
Congenica will use the proceeds to establish its presence in the US and China, where it will court not only clinical genetics labs, but specialists, academics, biotech, and pharma.
The company will use the proceeds from the round to invest in sales and marketing efforts for its Sapientia clinical genome analysis platform, as well as for R&D.
Genomics England will use the product to aid scientists and clinicians in 13 National Health Service Genomic Medical Centres with clinical reporting and interpretation.
Researchers reported on the impact sequencing projects have already had on participants, as well as the challenges, particularly in data interpretation and storage.
Proponents believe the Million European Genomes Alliance will spur research, stimulate the life sciences economy, and ultimately improve clinical care.
The ThromboGenomics consortium launched a 78-gene heritable bleeding, thrombotic, and platelet disorders panel and plans to merge its whole-genome sequence data with the 100,000 Genomes Project.
Cancer researcher Alan Rabson has died at 92, the New York Times reports.
As the National Guideline Clearinghouse goes dark, the ECRI Institute says it will pick up the slack.
In Genome Research this week: sequencing method examines proteins parasite uses to evade immune system, L1 insertions in cancer, and more.
The Atlantic reports on private Facebook support groups for people who receive unexpected parentage results from direct-to-consumer genetic tests.