Preprint: Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification
WHY IT MATTERS
Patients with rare genetic diseases may finally get faster and more accurate diagnoses because doctors will have a standardized way to interpret genetic test results, reducing the chance of misdiagnosis or missed diagnoses.
Scientists created a new tool called Gene Portals that helps doctors understand whether genetic changes cause rare diseases. Instead of searching through many different websites and databases, doctors can now use one central location that combines patient information, lab test results, and genetic data all in one place. This makes it easier and faster to figure out if a genetic mutation is actually responsible for a patient's rare disease.
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification Authors: Brünger, T. et al. Server: medRxiv Category: genetic and genomic medicine Abstract: Rare Mendelian disorders affect 300-400 million people globally. Although genetic testing has become widely adopted, gene-specific evidence for tailored variant interpretation remains scattered across resources. We present Gene Portals, a framework for gene-centered multimodal knowledge bases that co-localize expert-harmonized clinical data, functional assays, population variation, structural annotations and gene-specific ACMG/AMP specifications within a single resource. A modular interface integrates this unified evidence with VCEP-refined ACMG specifications to enable automated gene-specific