Tag : MONOGENIC DISORDERS

CONFERENCE UPDATE

rWGS demonstrates meaningful diagnostic utility in hospitalized adults with unexplained neurological manifestations
A retrospective study showed that rapid whole genome sequencing (rWGS) diagnosed nearly one-quarter of hospitalized adults with unexplained neurological manifestations. The approach identified monogenic disorders, successfully guiding targeted patient management. Diagnostic yield was highest in individuals presenting with multisystem involvement, family history, psychiatric symptoms, or unexplained ataxia.