Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases

Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases

Abstract Background Virtual Gene Panels (VGP) comprising disease-associated causal genes are utilized in the diagnosis of rare genetic diseases to evaluate candidate genes identified by whole-genome and whole-exome sequencing. VGPs generated by the PanelApp software were utilized in a UK 100,000 Gen...

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Bibliographic Details
Main Authors: Jaemoon Shin, Toyofumi Fujiwara, Hirotomo Saitsu, Atsuko Yamaguchi
Format: Article
Language:English
Published: BMC 2025-02-01
Series:BMC Medical Informatics and Decision Making
Subjects:
Rare disease
Ontology
Genetic testing
Virtual gene panel
Online Access:https://doi.org/10.1186/s12911-025-02910-2
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