Emedgene

Emedgene software is designed to unlock genomic insights for hereditary diseases by streamlining tertiary analysis workflows for rare disease genomics and other germline research applications. It accelerates the time and certainty in user-defined variant interpretation, prioritization, curation, and research report generation from sequencing and microarrays.

With explainable AI (XAI) and automation, Emedgene enhances efficiency in workflows, supporting genomes, exomes, virtual panels, targeted panels, and microarrays. This allows users to save valuable time per subject and project, from individual samples to population-scale studies.

Integration with DRAGEN secondary analysis ensures accurate, comprehensive, and efficient variant calling, speeding up user-driven variant interpretation by up to 75% per subject. The software unifies wet lab and dry lab processes, simplifying and securing complete sequencing or microarray workflows.

Key Features

• Explainable AI (XAI): Provides high accuracy and transparency, with every AI hypothesis backed by literature and database sources.
• Automation: Optimizes workflows for standard operating procedures across test types, locking in automated flows to maximize efficiency and scale.
• Powerful API Interoperability: Integrates workflows with APIs, linking tertiary analysis with laboratory information management systems, storage, pipelines, and more.

Emedgene supports scaling variant analysis with up-to-date knowledge sources, automated curation capabilities, and expert support. It enables labs to increase throughput without increasing headcount, broadening analysis to whole-genome sequencing (WGS), whole-exome sequencing (WES), and standardizing virtual panels.

Users can launch high-throughput WGS, WES, virtual panel, targeted panel, or microarray workflows integrated into their lab's digital ecosystem. The software also facilitates sharing curated knowledge across a private network of labs.

Emedgene's machine learning simplifies variant analysis, allowing labs to handle more tests daily. It provides automated ACMG classifications for various variant types, including SNVs, indels, CNVs, and SV deletions/duplications, maximizing the use and reuse of curated knowledge.

Overall, Emedgene software helps break the interpretation bottleneck by automating variant prioritization and classification processes, supporting the elimination of genomic data interpretation bottlenecks.