ArticleScientific reports2023
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Stratified Use of Genetic Testing in Liver Disease Improves Diagnostic Yield and Clinical Impact.International journal of molecular sciences · 2026Article
- Exome Sequencing in Adults with Unexplained Liver Disease: Diagnostic Yield and Clinical Impact.Diagnostics (Basel, Switzerland) · 2025Article
- Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution.Liver international : official journal of the International Association for the Study of the Liver · 2025Article
- Whole-exome sequencing for genetic diagnosis of idiopathic liver injury in children.Journal of cellular and molecular medicine · 2024Article
Corrections and comments
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Authors and funding
21 authors at 3 institutions in 1 country.
Funding
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 for these genes in 758 patients with chronic liver diseases (CLD). For comparison, we examined ES data in 7856 self-declared healthy controls (HC), and 2187 patients with chronic kidney disease (CKD). Candidate pathogenic (P) or likely pathogenic (LP) variants were initially identified in 19.9% of participants, most of which were attributable to previously reported pathogenic variants with implausibly high allele frequencies. After variant annotation and filtering based on population minor allele frequency (MAF ≤ 10
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Registered trials
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