Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases.
Journal:
BMC medical informatics and decision making
PMID:
39910609
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.