Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases

Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases

Background: The cause of chronic liver diseases (CLD) remains undiagnosed in up to 30% of adult patients. Whole-Exome Sequencing (WES) can improve the diagnostic rate of genetic conditions, but it is not yet widely available, due to the costs and the difficulties in results interpretation. Targeted...

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Bibliographic Details
Main Authors: Luisa Ronzoni, Ilaria Marini, Giulia Passignani, Francesco Malvestiti, Daniele Marchelli, Cristiana Bianco, Serena Pelusi, Daniele Prati, Luca Valenti
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Genetics
Subjects:
hereditary chronic liver diseases
targeted sequencing
gene panel design
whole exome sequencing (WES)
next-generation sequencing
NGS
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1137016/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1137016/full

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