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rare disease

Revenues have begun to recover in Q3, driven by a ramp in SARS-CoV-2 testing, and the firm now expects full-year 2020 revenues to exceed its prior guidance.

In the study, thirty percent of patients receiving a genome sequencing test obtained a new primary molecular genetic diagnosis.

The startup wants to serve the 50 percent or so of genetic disease patients who haven't obtained a molecular diagnosis despite extensive testing.

The GTEx Consortium, which has been working for 10 years, analyzed how genetic variants affect gene regulation, and how this contributes to disease and traits.

In a newly published paper, CHOP researchers described a method for rebuilding patient histories en masse to create gene-specific "footprints" in clinical records.

The report also identified opportunities to improve adoption through dissemination of evidence supporting the clinical and economic utilization of testing.

The service is the first of its kind in the UK and relies on the Illumina NovaSeq 6000 platform to deliver results.

TargetCancer is activating two enrollment sites and setting up a remote consenting process so patients with rare cancers can be seen at local community hospitals.

The firms will combine real-life data sets in rare diseases with expertise in big data, artificial intelligence, and computational algorithms.

The software generates reports for pharmacogenomics, rare diseases, predispositions to common diseases, and nutrigenomics.

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Novavax has begun a phase III trial of its SARS-CoV-2 vaccine, according to the New York Times.

Vox reports that the Trump Administration may limit student visas for individuals from some countries to two years.

The governor of New York says the state will conduct its own review of any SARS-CoV-2 vaccine, NPR reports.

This week in Science: Neanderthal Y chromosomes replaced by Homo sapiens Y chromosomes, and more.