Revolutionizing Rare Disease Diagnostics with SeqOne DiagAl

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Discover SeqOne’s DiagAI – a groundbreaking AI-powered solution designed to transform genomic variant interpretation. With Whole-Exome Sequencing (WES) and Whole-Genome Sequencing (WGS) methods producing up to 50,000 variants per patient, DiagAI tackles the overwhelming challenge of identifying clinically relevant genetic alterations with unprecedented efficiency and accuracy.

This innovative suite of AI-driven modules streamlines the interpretation process, dramatically reducing analysis time while maintaining the crucial role of expert judgment. At its core, the DiagAI Score provides a sophisticated 0-100 metric indicating the likelihood of a variant being disease-causing, integrating multiple features including pathogenicity assessment, phenotype relevance, and expert rules.

Key features of DiagAI include:

• Unparalleled accuracy in variant ranking, outperforming existing tools
• DiagAI ShortList, which narrows thousands of variants to an average of just 8-10 with 95% sensitivity
• DiagAI SmartPick, suggesting the most likely causative variants with high precision
• Explainable AI, providing transparency in decision-making processes

By leveraging advanced components such as the Universal Pathogenicity Predictor (UP²) and PhenoGenius, DiagAI sets a new standard in variant interpretation. It empowers laboratories to overcome resource constraints, maintain acceptable turnaround times, and accelerate diagnoses.