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Article

Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing.

The Journal of molecular diagnostics : JMD - 1 Nov 2021

Yang Ye, Zhang Jing, Li Li-Ting, Qiu Yi-Ling, Gong Jing-Yu, Zhang Mei-Hong, Li Cai-Hua, Wang Jian-She

Abstract excerpt

Progressive familial intrahepatic cholestasis type 1 (PFIC1) results from biallelic pathogenic variants in ATP8B1. This study sought second pathogenic variants in ATP8B1 by whole-genome sequencing (WGS) in four unrelated low γ-glutamyl transpeptidase cholestasis patients in whom clinical suspicion of PFIC1 was high and gene-panel or Sanger sequencing had identified only one pathogenic variant in ATP8B1. Sanger...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34543749
DOI: 10.1016/j.jmoldx.2021.07.028

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