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.
American scientists find themselves once again warning the Trump administration not to dismiss science, the New Yorker report.
A new study suggests CRISPR could be used to save coral reefs from dying off, Forbes reports.
Researchers have found that the i-motif shape of DNA previously observed in the lab also exists in human cells, and that it may serve a purpose.
In PNAS this week: a genomic, transcriptomic, and metabolomic analysis of the tea plant, Arabidopsis thaliana's adaptations to specific local environments, and more.