Exome Sequencing Reanalysis Improves Molecular Diagnosis in Genetic Cholestatic Liver Diseases.

Date publication

octobre 2026

Journal

JHEP reports : innovation in hepatology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr BRONOWICKI Jean-Pierre , Pr NAMOUR Bernard , Pr OUSSALAH Abderrahim

Tous les auteurs :
Rodriguez MS, Larbaoui A, Largo M, Goksen B, Haghnejad V, Bensenane M, Chéry C, Daude S, Bonneton M, Lambert L, Feillet F, Namour F, Bronowicki JP, Oussalah A

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/42925988

Résumé

The 2024 European Association for the Study of the Liver (EASL) guidelines recommend periodic reanalysis of exome data in genetic cholestatic liver diseases, although supporting evidence remains limited and optimal gene panel composition has not been established. We evaluated the molecular diagnostic yield of systematic reanalysis of clinical exome sequencing (CES) data and compared cholestasis-focused gene panels.

Mots clés

ACMG, EASL guidelines, LPAC, PFIC, SERPINA1, alpha-1 antitrypsin deficiency, cholestasis, clinical exome sequencing, diagnostic yield, gene panel, next-generation sequencing, reanalysis

Référence

JHEP Rep. 2026 10 24;:102076