birth defects
Sequencing Study Points to Prenatal Development Syndrome, Possible Treatment Strategy
With the help of sequencing, researchers identified several families affected by Zaki syndrome, caused by potentially targetable mutations affecting Wnt signaling.
Wide Variation in Genomic Testing Utilization Across US, Report Finds
The report also identified opportunities to improve adoption through dissemination of evidence supporting the clinical and economic utilization of testing.
The company believes cytogeneticists will adopt its panel to get high-quality SNV and CNV data in a single assay.
HudsonAlpha Wins $12.4M in NIH Grants for Population Genomics, Pediatric Sequencing
The institute will apply long-read sequencing to the NIH All of Us program and conduct pediatric sequencing for cancer and birth defect studies.
HudsonAlpha's Genome Gateway collects family histories and facilitates secure communication between patients, clinicians, and researchers.