Genomics England

Diagnostic WGS will be centralized and performed at the same Genomics England facility used in the 100,000 Genomes Project.

Genomics England, which runs the UK's 100,000 Genomes Project, has tapped Edico to reprocess thousands of whole genomes for diagnosing rare diseases.

As of this week, the project had sequenced 39,500 genomes and returned reports for about 3,000 rare disease families and more than 600 cancer patients.

Fabric disclosed partnerships with Rady Children's Institute for Genomic Medicine, the Utah Genome Project, and Genomics England's 100,000 Genomes Project.

Called GA4GH Connect, it calls on the alliance's 500-plus members to develop new data sharing standards for use in major international genomic data initiatives.

A life sciences industrial strategy out this week provided long-term guidance for supporting and enhancing growth in the sector in the UK.

Illumina's BaseSpace Variant Interpreter encompasses standards for analysis and interpretation developed under a partnership between the firm and Genomics England.

Core elements of the new program include integrating genomic data into electronic medical records and the establishment of a national genome center.

Rare Answers

Sequencing is enabling the roots of some rare diseases to be determined, the Financial Times reports.

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.

Pages

A federal grand jury has indicted Elizabeth Holmes and Ramesh Balwani for alleged wire fraud in conjunction with their activities at Theranos.

Nature News reports that some developers are nervous about GitHub's acquisition by Microsoft.

A direct-to-consumer genetic testing company sent out used spit kits, CNBC reports.

In PLOS this week: comparison of commercial bisulfite kits, new method to predict essential proteins, and more