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

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

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.