Rare Disease Diagnosis The Promise of Whole-Genome Sequencing in Pediatrics Abstract Rare diseases collectively affect millions of children worldwide and represent a significant source of morbidity, mortality, and long term disability. Although individual rare disorders have low prevalence, their cumulative impact places a substantial
Tag: Whole-Genome Sequencing
Point-of-Care Whole-Genome Sequencing in the ED: A Glimpse of the Future?
Point-of-Care Whole-Genome Sequencing in the ED A Glimpse of the Future Check out our extensive video library (see channel for our latest videos) Abstract The introduction of whole-genome sequencing (WGS) into emergency department (ED) settings has the potential to reshape acute care medicine by enabling rapid,
