GuRu revolutionises genomic research and clinical diagnostics by automating the interpretation of variant evidence with precision and adherence to open standards and guidelines.
GuRu is a state-of-the-art tool designed to automate the interpretation of variant evidence, specifically tailored for use in genomic research and clinical diagnostics. This innovative tool simplifies the complex process of variant classification according guidelines including ACMG/AMP, ensuring accurate, reliable, and reproducible results.
By integrating with leading genomic databases with open algorithms, GuRu interprets genetic data with unparalleled precision. The tool’s core functionality includes automated scoring of variants, integration of prediction engines, and comprehensive annotation from over 160 databases, ensuring a thorough assessment of each variant’s pathogenic potential.
The output of GuRu is directly digested by Hercales for reporting.
Key Features:
- Automated interpretation of genetic variants using ACMG/AMP criteria.
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- High-throughput analysis capability, ideal for large genomic datasets.
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- Integration with genomic databases for enhanced annotation and evidence assessment.
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- Customisable reporting options to suit different clinical and research needs.
- GuRu supports clinicians and researchers by providing a quantifiable confidence score for each variant interpretation, crucial for making informed decisions in clinical settings and research studies. The tool’s robust framework and adherence to international standards make it an essential resource for genetic analysis, offering detailed insights that empower healthcare professionals and researchers to understand and act upon complex genomic data.
