AI-Powered Insights
for Inherited Diseases.
Extract HPO terms for streamlined phenotype analysis
Prioritize variants with AI-driven ranking to speed up expert review
Reassess variants automatically for real-time ClinVar updates with GenomeAlert!
Generate comprehensive clinical reports with all the insights you need at a glance
Diagnosing rare diseases is like finding a needle in a haystack—hidden among thousands of variants, the key to a patient’s diagnosis can be difficult to pinpoint.
Molecular labs work with remarkable accuracy to extract meaningful insights from NGS data, but the process can be time-consuming and complex. SeqOne’s AI-powered tools simplify NGS analysis, making data easier to interpret and accelerating the path to answers.
Every exome or genome sequencing case reveals 20,000–50,000 variants. Filtering down to the right candidate takes time—turning variant interpretation into a bottleneck. DiagAI changes that.
SeqOne’s AI-powered assistant accelerates rare disease diagnostics by ranking variants based on pathogenicity, phenotype relevance, and expert-curated rules.
At APHM, one of France’s leading university hospitals, geneticists faced a growing challenge: too many variants, too little time. Their exome sequencing workflow was slow, manual, and overloaded, delaying critical diagnoses for patients with rare diseases.Enter SeqOne. By integrating AI-powered variant prioritization and automated workflows, APHM transformed its exome sequencing pipeline.
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