Emedgene

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

With explainable AI (XAI), Emedgene improves efficiency and confidence in user-defined variant interpretation. It supports genomes, exomes, virtual panels, targeted panels, and microarrays, saving valuable time per subject and project.

Key Features

• Explainable AI (XAI): Provides high accuracy in prioritizing insights with evidence-backed transparency, enhancing workflow efficiency.
• Automation: Optimizes workflows across test types, integrating with laboratory information management systems and other tools.
• Powerful API Interoperability: Facilitates integration with various systems for seamless data management.

Emedgene unifies wet and dry lab processes, integrating with DRAGEN secondary analysis for accurate variant calling. It speeds up user-driven variant interpretation by up to 75% per subject, from single sample workflows to population-scale studies.

The software supports scaling operations without increasing headcount, using automated workflows and XAI. It broadens analysis capabilities to whole-genome sequencing (WGS), whole-exome sequencing (WES), and various variant types, including SNVs, indels, STRs, CNVs, and mtDNA.

Emedgene also enables the launch of high-throughput workflows for various genetic research applications, including rare disease research, hereditary risk assessment, and pharmacogenomics. It allows sharing of curated knowledge across a private network of labs.

With 97% accuracy in prioritizing relevant insights, Emedgene's AI suggests variants in complex datasets, reducing manual review time. It automates ACMG classifications for various variant types, maximizing the use of curated knowledge.

Emedgene's machine learning capabilities simplify variant analysis, supporting the elimination of genomic data interpretation bottlenecks. It is equipped with security and privacy features to protect sensitive NGS data.