Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …

The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …

Genetic disorders are a leading contributor to mortality in neonatal and pediatric intensive
care units (ICUs). Rapid whole-genome sequencing (rWGS)-based rapid precision medicine …

Critically ill infants and children with rare diseases need equitable access to rapid and
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …

Importance Whole-genome sequencing (WGS) shows promise as a first-line genetic test for
acutely ill infants, but widespread adoption and implementation requires evidence of an …

Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …

Whole-genome sequencing (WGS) can identify variants that cause genetic disease, but the
time required for sequencing and analysis has been a barrier to its use in acutely ill patients …

Since the start of the coronavirus disease 2019 (COVID-19) pandemic, important insights
have been gained into virus biology and the host factors that modulate the human immune …

Despite being collectively among the most frequent congenital developmental conditions
worldwide, differences of sex development (DSD) lack recognition and research funding. As …

Pregnancy loss and perinatal death are devastating events for families. We assessed
'genomic autopsy'as an adjunct to standard autopsy for 200 families who had experienced …