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Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.

The Journal of pediatrics - 1 Jul 2023

Chen Chi-Bo, Hsu Jacob Shujui, Chen Pei-Lung, Wu Jia-Feng, Li Huei-Ying, Liou Bang-Yu, Chang Mei-Hwei, Ni Yen-Hsuan, Hwu Wuh-Liang, Chien Yin-Hsiu, Chou Yen-Yin, Yang Yao-Jong, Lee Ni-Chung, Chen Huey-Ling

Abstract excerpt

OBJECTIVES: To determine how advanced genetic analysis methods may help in clinical diagnosis. STUDY DESIGN: We report a combined genetic diagnosis approach for patients with clinical suspicion of genetic liver diseases in a tertiary referral center, using tools either tier 1: Sanger sequencing on SLC2SA13, ATP8B1, ABCB11, ABCB4, and JAG1 genes, tier 2: panel-based next generation sequencing (NGS), or tier 3:...

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PMID: 37019333
DOI: 10.1016/j.jpeds.2023.113408

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