In a paper published this week in the American Journal of Human Genetics, collaborators led by the Rady Children's Institute for Genomic Medicine (RCIGM) formally spelled out plans to improve detection and treatment of rare hereditary pediatric diseases through rapid whole-genome sequencing (rWGS).
Two studies published in the American Journal of Human Genetics show the potential for genomic screening in newborns to address high rates of infant hospitalization and mortality in the United States and reported a 97 percent reduction in false positives based on a method derived from human evolution.
