High-yield Phenotypes & Contribution of Small CNV

For a study, researchers sought to distinguish the diagnostic effectiveness of medical exome, whole-exome, and whole-genome sequencing-based on primary symptoms, the role of minor copy number changes, and the influence of molecular diagnosis on clinical care. A prospective research of 17 tertiary care centers was carried out between April 2019 and March 2021. Critically sick neonates and babies under the age of six months were recruited from neonatal intensive care units and outpatient clinics. In the first stage of testing, the patients received medical exome, whole-exome, or whole-genome sequencing. Patients who had negative findings from medical exome or whole-exome sequencing performed whole-genome sequencing. Contacting primary care providers was used to assess the influence of molecular diagnosis on clinical treatment. 

About 41 (48%) of the 85 patients obtained good findings. Patients with metabolic phenotypes had the highest diagnostic yield (67%, 4/6 patients), followed by renal (60%, 3/5 patients), and neurologic phenotypes (58%, 14/24 patients) based on main symptoms. About 4 of them had harmful minor copy number variants discovered by whole-genome sequencing. Twenty (49%) of the 41 patients with a molecular diagnosis experienced modifications in clinical care. For metabolic, renal, and neurologic symptoms, genome analysis in critically sick neonates and infants exhibited a high diagnostic yield. In 5% of all patients, small copy number variants found with whole-genome sequencing contributed to the overall molecular diagnosis. The molecular diagnosis that resulted had a substantial influence on clinical care.


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