基因检测
医学
外显子组测序
外显子组
肝病学
诊断试验
肝硬化
遗传咨询
生物信息学
遗传诊断
医学诊断
重症监护医学
计算生物学
内科学
遗传学
病理
突变
生物
儿科
基因
作者
Jeremy S Nayagam,Steven Masson,James W. Ferguson,William Griffiths,Deepak Joshi
标识
DOI:10.1016/j.jhep.2023.05.049
摘要
The authors have no conflicts of interest to disclose. Hepatology Genome Rounds: an interdisciplinary approach to integrate genomic data into clinical practiceJournal of HepatologyPreviewIn the last decade, the utility of whole-exome sequencing in uncovering genetic aetiologies of a variety of liver diseases has been demonstrated. These new diagnoses have guided the management, treatment, and prognostication of previously undiagnosed patients, largely thanks to improved insight into the underlying pathogenesis of their conditions. Despite its clear benefits, the uptake of genetic testing by hepatologists has been limited, in part due to limited prior genetic training and/or opportunities for continuing education. Full-Text PDF
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