ResearchPUBMEDMar 26
Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.
Scientists created a new tool that helps doctors diagnose rare diseases by looking at both DNA and RNA (the instructions cells use to make proteins). The tool is better at handling differences in how genes work in different people and situations, making it easier to find which gene changes cause a patient's rare disease.
WHY IT MATTERSThis workflow could speed up diagnosis for patients with undiagnosed rare diseases by combining DNA and RNA analysis, potentially reducing the time from symptom onset to genetic diagnosis.
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