Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.

Jong Woo HahnHeerah LeeMinSoo ShinMoon Woo SeongJin Soo MoonJeong Kee Seo

Published in: Journal of gastroenterology and hepatology (2024)

Alagille syndrome and neonatal intrahepatic cholestasis caused by citrin deficiency were the most common diseases associated with genetic neonatal cholestasis. Single-gene testing and next-generation sequencing are important and complementary tools for the diagnosis of genetic neonatal cholestasis.

Keyphrases

copy number
genome wide
drug induced
machine learning
dna methylation
deep learning
gene expression
case report
replacement therapy