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

doi:10.1038/s41598-023-42202-1

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Article

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

Scientific reports - 6 Dec 2023

Kong Xiao-Fei, Bogyo Kelsie, Kapoor Sheena, Shea Patrick R, Groopman Emily E, Thomas-Wilson Amanda, Cocchi Enrico, Milo Rasouly Hila, Zheng Beishi, Sun Siming, Zhang Junying, Martinez Mercedes, Vittorio Jennifer M, Dove Lorna M, Marasa Maddalena, Wang Timothy C, Verna Elizabeth C, Worman Howard J, Gharavi Ali G, Goldstein David B, Wattacheril Julia

Abstract excerpt

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...

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Identifiers

PMID: 38057357
DOI: 10.1038/s41598-023-42202-1
PMCID: PMC10700603

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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