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rare disease

The software tool, currently in development, is set to be introduced next year and could also find application in other indications such as cancer.

In Nature this week: population sequencing led to rare disease diagnoses, analysis of marine green alga leads to discovery of new phylum, and more.

The researchers found that WGS can streamline disease diagnosis and used it to discover unknown etiological variants in coding and non-coding genomic regions.

The Sydney Morning Herald reports that a study using ultrarapid genetic testing was able to diagnose about half the critically ill infants and children tested.

The Rostock, Germany-based company reported €12.1 million ($13.6 million) in revenues, missing the average analyst estimate of $14.7 million.

Through a Picture

A new study finds that three dimensional facial scans may be able to aid in diagnosing rare genetic diseases.

In Nucleic Acids Research this week: tool to track co-expression networks, tool to prioritize variants in rare diseases, and more.

Other Effects

BuzzFeed News reports that studies of rare genetic diseases have been affected by pandemic-related closures.

The company, headquartered in Rostock, Germany, reported €15.2 million ($16.4 million) in revenues for Q4, with growth driven by its pharmaceutical business.

Invitae will provide free genetic testing on a 53-gene panel and counseling to patients suspected of having an LSD to facilitate earlier diagnosis and appropriate treatment.

Pages

The Washington Post reports on researchers' efforts to determine the effect of an increasingly common SARS-CoV-2 mutation.

Florida Politics reports Florida's law barring life, long-term care, and disability insurers from using genetic information in coverage decisions went into effect at the beginning of July.

A new analysis finds a link between popular media coverage of a scientific study and how often that paper is cited.

In Nature this week: CRISPR approaches to editing plant genomes, way to speed up DNA-PAINT, and more.