Increasing pathogenic germline variant diagnosis rates in precision medicine: current best practices and future opportunities
Abstract The accurate diagnosis of pathogenic variants is essential for effective clinical decision making within precision medicine programs. Despite significant advances in both the quality and quantity of molecular patient data, diagnostic rates remain suboptimal for many inherited diseases. As s...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-08-01
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| Series: | Human Genomics |
| Online Access: | https://doi.org/10.1186/s40246-025-00811-z |
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