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Congenica Automation

Congenica has updated its clinical decision support platform by launching the Automated Classification of Known Variants product, Congenica Automation. This will provide automated classification as well as evidence and reporting of recurrent 'known' variants that customers observe in their rare disease cases. The new product aims to reduce interpretation and reporting time by 90 percent compared to the company's existing solution, so complex genomic data can be reported in as little as 5 minutes. For example, interpretation and reporting of 4,000 cases with recurrent pathogenic or likely pathogenic variants could be completed in 5 to 8 minutes for each case. Users of the new product can also create their own customized curated variant list to be used for the automated process.

The Scan

Fertility Fraud Found

Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today.

Ties Between Vigorous Exercise, ALS in Genetically At-Risk People

Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports.

Test Warning

The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK.

Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine

In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.