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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.
Stanford University's Allison Kurian and her colleagues found that women with pathogenic variants were more likely to undergo a bilateral mastectomy.
Parents of children with rare genetic disease have to contend with shifts in the interpretation of genetic variants, the Wall Street Journal reports.
In PNAS this week: sequencing of Globular Amphora culture individuals, characterization of effects of variants of unknown significance in EGFR, and more.
The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.
Researchers were able to classify 1,244 of 4,585 putatively clinically relevant rare variants genotyped on the UKB microarray as high quality.
Nobel laureates and scientific societies urge NIH and the Department of Health and Human Services to revisit the recent decision to end funding for a coronavirus grant.
Bloomberg reports that BGI's SARS-CoV-2 testing sites in the Middle East have raised concerns among US officials.
A new Pew Research Center poll finds confidence in medical researchers has grown among US adults since the start of the coronavirus pandemic.
In Science this week: machine learning algorithm for faster Mendelian disorder diagnoses, gene linked to safe response to nitrogen-containing bisphosphonates, and more.