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variant classification

Invitae said YouScript and Genelex will enable it to provide pharmacogenomic testing, while Diploid will help interpret WGS results.

Following a lengthy discovery period, the lab is asking a South Carolina federal district court to find in its favor and decide that its negligence did not result in the death of Williams' son.

Call to Share

The Wall Street Journal reports that the American College of Medical Genetics and Genomics has called on Myriad Genetics and others to share the genetic data they have amassed.

In seven years, the public variant classification database has steadily become a resource that labs are submitting to and that genetics experts are consulting.

This report contains a quantitative, evidence-based scoring framework to help guide the evaluation of constitutional CNVs across clinical labs.

With a $3.7 million NIH grant, database developers hope to garner FDA recognition, develop a new user interface, and further integrate its use in cancer care.

The researchers estimated that addition of RNA-based testing could benefit about 1 in 43 individuals undergoing hereditary cancer predisposition genetic testing.

The firm hopes to return fewer VUS in its test reports and to accelerate the resolution of uncertain results issued to patients in that past.

The partners will codevelop software for both small and large variant detection and Illumina will create hardware-accelerated versions for its Dragen platform.

Invitae sees Jungla's AI platform as complementary to its own variant classification and interpretation methods.

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Nature News reports that genomics is being applied to trace and try to prevent additional COVID-19 waves.

Rady's Children Hospital and San Diego County are teaming up to test pediatric patients and their families for COVID-19 to gauge the spread of the virus locally, according to the San Diego Union-Tribune.

Wildlife managers aim to boost the genetic diversity of Mexican gray wolves by placing captive-born foster pups into packs with similarly aged wild pups, the Mercury News reports.

In Science this week: Genetic Probability tool identifies likely diagnoses in 45 percent of inflammatory arthritis cases, and more.