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.
At the National Society of Genetic Counselors annual meeting, a number of clinicians said they conduct their own investigations of variants in clinical lab reports.
A re-analysis of genomic tests for 309 children with epilepsy altered diagnoses for more than a third of patients with a previously reported genetic variant.
Forensic genetic firm Verogen has bought the genetic genealogy site GEDmatch.
Researchers have 3D-printed plastic bunnies that encase the information needed to make more such bunnies in DNA, according to Discover magazine.
Dan Rather, the former CBS Evening News anchor and executive producer of a new documentary, writes at the Guardian that everyone needs to know about CRISPR.
In PNAS this week: analysis of FOXA1 upregulation in ER-positive breast cancer, gene editing to correct recessive dystrophic epidermolysis bullosa, and more.