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 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.
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.
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.
In Science this week: machine learning algorithm for faster Mendelian disorder diagnoses, gene linked to safe response to nitrogen-containing bisphosphonates, and more.
