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rare disease

Diagnostics revenues were €32.5 million in Q3, up almost fivefold from €6.8 million last year, and included €27.4 million from commercial coronavirus testing.

Under the non-exclusive partnership, Emedgene will integrate its genome interpretation application into Illumina's TruSight software suite.

HudsonAlpha researchers analyzed what, if any, errors healthcare providers in the neonatal intensive care unit made when returning sequencing results.

A National Society of Genetic Counselors panel discussed whether healthcare providers are ready for whole-genome sequencing to be adopted as a first-line test.

At an AMP virtual meeting workshop, a Mayo Clinic lab director offered advice on what diseases to include, how to handle VUSs, and other considerations for ECS.

With its recent $50 million VC round, the British bioinformatics firm is targeting growth in new applications as it accelerates tertiary data analysis.

In PLOS this week: differential transcript usage and splicing among Parkinson's disease patients, search for markers of intracranial aneurysms, and more.

The firm's CLIA lab presented data at the virtual ASHG meeting showing how it validated WGS-based STR expansion analysis to diagnose rare disease.

The German diagnostics firm expects more than €80 million in 2020 revenues, driven by its recovering core business and its COVID-19 testing business.

And After the Test

In an editorial at BMJ Opinion, two genetic counselors call for an increased focus on post-test patient care.

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According to the Associated Press, genetic genealogy has helped law enforcement officials identify an unknown victim of the Green River Killer.

Imperial College London researchers are shifting away from testing a COVID-19 vaccine to focus on combating newly emerging SARS-CoV-2 variants, the Independent says.

In PNAS this week: target to reduce chemotherapy-induced cardiac injury, tool finds ancient endogenous RNA viruses, and more.

Moderna reports its vaccine is effective against new SARS-CoV-2 strains, though it is also developing a booster, according to the New York Times.