The diagnostic yield of exome sequencing in liver diseases from a curated gene panel

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel

Abstract Exome sequencing (ES) has been used in a variety of clinical settings but there are limited data on its utility for diagnosis and/or prediction of monogenic liver diseases. We developed a curated list of 502 genes for monogenic disorders associated with liver phenotypes and analyzed ES data...

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Bibliographic Details
Main Authors: Xiao-Fei Kong, Kelsie Bogyo, Sheena Kapoor, Patrick R. Shea, Emily E. Groopman, Amanda Thomas-Wilson, Enrico Cocchi, Hila Milo Rasouly, Beishi Zheng, Siming Sun, Junying Zhang, Mercedes Martinez, Jennifer M. Vittorio, Lorna M. Dove, Maddalena Marasa, Timothy C. Wang, Elizabeth C. Verna, Howard J. Worman, Ali G. Gharavi, David B. Goldstein, Julia Wattacheril
Format: Article
Language:English
Published: Nature Portfolio 2023-12-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-023-42202-1

Internet

https://doi.org/10.1038/s41598-023-42202-1

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