Whole Genome Sequencing Facilitates Diagnosis of Rare Diseases in Infants


The researchers found that whole-genome sequencing captured almost twice as many genetic abnormalities that could cause disease in infants compared to standard targeted testing. In the Genomic Medicine for Sick Newborns and Infants (GEMINI) study, whole-genome sequencing had a diagnostic yield of 49%, compared with a diagnostic yield of 27% with NewbornDx, a standard targeted … Read more