News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
The study provided whole-exome diagnostic sequencing for 106 newborns with hearing loss while also offering optional screening results for genes associated with childhood-onset conditions.
Researchers at ASHG reported on projects studying the potential of implementing on a large scale rapid WGS in NICUs for faster diagnosis of genetic disorders.
The National Institutes of Health Commercial Accelerator Program helps small healthcare and life science companies bring their products to market.
Rady Children's will provide rapid WGS as a first-line diagnostic test for newborns in the intensive care unit at four participating hospitals in California.
A review of Myriad Genetics' results over 10 years revealed that a significant proportion of variant calls were reclassified at some point.
