The addition of certain kinds of information could help clinical labs determine whether variants of uncertain significance are pathogenic or benign.
The WUSTL-developed method detects a bile acid that is found at increased levels in Niemann-Pick patients, and is ready for pilot testing, its developers said.
Tute has partnered with LIMS provider UniConnect to build infrastructure to support gene panels for mitochondrial, metabolic, and other genetic diseases.
Clinicians in Boston are beginning to sequence newborns' genomes, CBS Boston reports.
In PNAS this week: common variants that influence viral load in HIV patients, tumor evolution patterns, and more.
The newborn screening firm has attracted investment from Illumina and institutional investors and a loan from the North Carolina Biotechnology Center.
The NIH has issued a preliminary guidance for newborn dried blood spot research.
The BabySeq project to study the risks and benefits of sequencing newborns is underway.
An editorial appearing in JAMA says that an amendment to the newborn screening law could hamper public health investigations.
The company recently launched a next-gen sequencing newborn screening panel, targeting 89 genes that have been linked to more than 60 metabolic conditions.
James Wyngaarden, the former director of the US National Institutes of Health, has died at 94, according to Duke University School of Medicine.
The Associated Press reports that a state board in Texas has asked ANDE, a maker of rapid DNA machines, to halt its work there.
Researchers find that a 30-year-old skull comes from a narwhal-beluga hybrid, according to Science News.
In Nature this week: study of value diversity in GWAS, Epstein-Barr virus subtypes linked to nasopharyngeal carcinoma risk, and more.