Article
Clinical utility and genomic insights from whole exome and clinical exome sequencing in idiopathic liver disease.
Human molecular genetics - 23 Feb 2026
Bozkurt Kekilli Seray, Karalar Pekuz Ozge Kamer, Kekilli Arda, Binicier Hatice Cilem, Sahin Uyar Sibel Burcak, Ozkan Etkin, Arslan Gülten Zumrut, Aydogan Ayca, Akarsu Mesut, Arslan Nur, Ulgenalp Ayfer, Caglayan Ahmet Okay
Abstract excerpt
BACKGROUND: Chronic liver disease (CLD) is a major global health burden, causing ~ 2 million deaths annually. In a substantial proportion of cases, extensive hepatology and metabolic evaluations fail to determine the etiology, leading to classification as idiopathic liver disease, which may harbor rare genetic causes. This study assessed the clinical utility of whole-exome sequencing (WES) and clinical-exome...
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