Neonatal Encephalopathy

Background and Objectives: Neonatal encephalopathy (NE) is characterized by an abnormal level of consciousness with or without seizures in the neonatal period. It affects 1-6/1,000 live term newborns. We applied genome sequencing (GS) in term newborns with NE to investigate the underlying genetic causes. Methods: We enrolled term newborns according to inclusion/exclusion criteria during their Neonatal Intensive Care admission. We performed GS trio and applied bioinformatic tools. We developed pipelines for manual filters. We applied in silico prediction tools, protein 3D modeling, and functional characterization to assess the pathogenicity of variants. Results: variants may be causative of NE in our study. Discussion: ) that may cause NE. We believe that protein 3D modeling is an important tool to assess the pathogenicity of CNVs and may advance the discoveries of novel genetic diseases. However, functional characterization of missense variants is essential for discoveries of novel genetic diseases. It seems that GS can help identify more candidate genes compared with ES.