Clinical utility and genomic insights from whole exome and clinical exome sequencing in idiopathic liver disease

Key Points

• The aim is to evaluate the effectiveness of whole exome and clinical exome sequencing in diagnosing idiopathic liver disease.
• Used whole exome and clinical exome sequencing (WES/CES)
• Analyzed a cohort of patients with idiopathic liver disease
• Identified candidate variants for unresolved cases
• Achieved an actionable diagnosis in 33% of patients
• Identified novel candidate variants in several unresolved cases
• Supported integration of sequencing into clinical workflows for liver disorders