James E. Davison

RAPID uses targeted long-read RNA sequencing to resolve splice variants in rare disease cases, providing functional evidence for diagnosis and variant interpretation.

The paper identifies a COA5 missense variant causing isolated mitochondrial complex IV assembly impairment in two siblings and validates its role in early CIV assembly using patient-derived cells and CRISPR/Cas9 knockout models.

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.