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hereditary disease

The tools are part of Molecular Health's MH Guide platform, which analyzes sequencing data to identify and report on disease-related gene variants.

The company reported $112.4 million in revenues compared to $83.2 million in Q4 2019, beating the average Wall Street estimate of $106.6 million.

Under the Ge-Med project, University Hospital Tübingen will offer diagnostic whole-genome sequencing for all genetic indications and will include PRS in its reporting.

The assay combines Twist's Human Comprehensive Exome with customized content for rare and inherited diseases from Australia-based VCGS.

The Swedish firm will use the proceeds from the private placement to finance its global marketing and sales expansion.

Later this year, the inherited cardiovascular disease clinic also plans to implement a preventive genomics program with polygenic risk score and PGx testing.

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.

During a session at the ASHG 2020 virtual meeting, representatives from both organizations laid out the reasons for their contrasting guidelines.

At ASHG, a FinnGen researcher reported new recessive disease associations for cataracts, hearing loss, and other conditions, identified through the population study.

Based on the results of Project Baby Bear, Rady Children's Hospital-San Diego hopes the State of California will cover rapid whole-genome sequencing going forward.

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New analyses indicate the P.1 variant found in Brazil may be able to infect people who have already had COVID-19, the New York Times reports.

According to CNBC, Novavax's CEO says its vaccine could be authorized in the US as early as May.

The US National Institutes of Health has a new initiative to address structural racism in biomedical research.

In PNAS this week: GWAS of TLV-1-associated myelopathy/tropical spastic paraparesis, analysis of twins with hypertrophic cardiomyopathy, and more.