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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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-02-01
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| Series: | BMC Medical Informatics and Decision Making |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12911-025-02910-2 |
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