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 Genome Project pilot study to filter candidate genes, thus enhancing diagnostic efficiency for rare diseases. However, PanelApp also filtered out disease-causing genes in nearly 50% of the cases.

Methods

Here, we propose various methods for optimized approach to design VGPs that significantly improve the diagnostic efficiency by leveraging the hierarchical structure of the Mondo disease ontology, without excluding disease-causing genes. We also performed computational experiments on an evalua

SUBMITTER: Shin J 

PROVIDER: S-EPMC11800421 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature