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Researchers reclassified 86 percent of variants initially determined to be VUS, potentially changing surveillance or treatment approaches for patients.
The partners hope that the relationship will expand the reach of the COSMIC database for somatic tumor mutations while also fine-tuning future technology development.
Williams v Quest/Athena struck a nerve with the genetic testing community by probing what the standard of care is and ought to be for variant classification.
The next iteration of Ancestry's Health experience seeks to provide customers with actionable information about certain commonly inherited health conditions.
Results from the PROMPT registry presented at ASCO showed that 10 to 15 percent of women with variants in genes not linked to ovarian cancer had oophorectomies.
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.
In seven years, the public variant classification database has steadily become a resource that labs are submitting to and that genetics experts are consulting.
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 company will bring its Mastermind genomic search engine to clinical labs in China, where early tests have shown a sharp reduction in VUS search time.
Researchers tracked down monogenic risk variants, carriers, disease culprits, and more for 50 individuals with cardiomyopathy and 50 unaffected participants.
NPR reports that vaccine developers are working on SARS-CoV-2 vaccines that are easier to store or administer than the current crop.
Researchers are developing a breath test to determine how severe patients' methylmalonic acidemia disease is, FierceBiotech reports.
Reuters reports that France is to recommend that people under 55 who received one dose of AstraZeneca's SARS-CoV-2 vaccine receive a different vaccine for their second dose.
In Science this week: review discusses advances in liquid biopsies, and more.