Emedgene

Emedgene software facilitates the interpretation of genomic variants, enhancing workflows for rare disease genomics and other germline research applications. It employs explainable AI (XAI) to accelerate variant interpretation, prioritization, curation, and research report generation from sequencing and microarrays.

The software integrates with DRAGEN secondary analysis to provide accurate and efficient variant calling, supporting genomes, exomes, virtual panels, targeted panels, and microarrays. This integration speeds up user-driven variant interpretation by up to 75% per subject, from single sample workflows to population-scale studies.

Key Features

• Explainable AI (XAI): Provides high accuracy in prioritizing insights with evidence-backed transparency, enhancing workflow efficiency and confidence.
• Automation: Optimizes workflows for standard operating procedures across various test types, ensuring efficient and scalable operations.
• Powerful API Interoperability: Facilitates integration with laboratory information management systems, storage, and pipelines.

Emedgene supports scaling operations without increasing headcount by using automated workflows and XAI. It allows for expanded analysis, including whole-genome sequencing (WGS), whole-exome sequencing (WES), and standardized virtual panels. The platform also supports various variant types, such as SNVs, indels, short tandem repeats (STRs), copy number variants (CNVs), and other structural variants.

Users can launch assays for a range of applications, including rare disease research, hereditary risk assessment, carrier screening, and pharmacogenomics. The software enables the sharing of curated knowledge across a private network of labs, enhancing collaborative efforts.

Emedgene's machine learning capabilities simplify the complex task of variant analysis, allowing labs to handle more tests daily. With a 97% accuracy rate in prioritizing relevant insights, the AI suggests variants in complex datasets, significantly reducing manual review time.

Security and privacy are prioritized, with compliance certifications in place to protect sensitive NGS data. The software is designed to keep pace with evolving science and technology, supported by up-to-date knowledge sources and expert assistance.