The researchers found that WGS can streamline disease diagnosis and used it to discover unknown etiological variants in coding and non-coding genomic regions.
The technique, called INVAR, applies error-suppression methods and signal enrichment to analyze hundreds of loci to detect circulating tumor DNA in blood samples.
Along with significantly mutated genes across cutaneous melanoma cases, researchers saw loss-of-function mutations in the X chromosome gene DDX3X in tumors from male patients.
Based on the results of Project Baby Bear, Rady Children's Hospital-San Diego hopes the State of California will cover rapid whole-genome sequencing going forward.
The company is commercializing a genome-wide sequencing method called MRDetect, developed by researchers at the New York Genome Center and Weill Cornell Medicine.
Florida Politics reports Florida's law barring life, long-term care, and disability insurers from using genetic information in coverage decisions went into effect at the beginning of July.
