Streamlined genetic disease workflows that power labs for growth
Current tools for rare-genetic and other germline variant analysis are fragmented, often involving several pipelines requiring separate integration efforts and maintenance schedules. This disjointed framework prevents laboratories from scaling services effectively. Today, high-throughput labs need intuitive tools for variant calling, insights generation and interpretation support, and reporting in a comprehensive and seamless way.
Emedgene, integrated with DRAGEN, consolidates all these functions at your fingertips. Simplify rare variant analysis and interpretation for research applications by calling, prioritizing, and reporting on variants from a single software interface within a connected workflow. Emedgene is ideal for mid to high-throughput labs using whole-genome, whole-exome, and targeted or virtual panel sequencing to evaluate variants and generate insights associated with genetic disease.
Learn more about DRAGEN Secondary Analysis to support comprehensive, accurate, and efficient variant calling.
Learn more about Emedgene to integrate with DRAGEN and to streamline variant interpretation through research report generation.
DRAGEN secondary analysis provides highly accurate rare variant calling and analysis, with automated processing and rapid turnaround time. Powered by the DRAGEN multigenome (graph) reference and machine learning (ML), the suite performs accurate, comprehensive, and efficient identification for key variant types and capabilities, including:
By analyzing and visualizing multiple types at one time, you can easily view compound heterozygosity across variant categories. DRAGEN v4.2 functionalities are now available on Emedgene for integrated rare variant analysis and interpretation.
Emedgene was designed by geneticists to streamline interpretation workflows and reduce the variant curation burden. It features an automated, explainable-AI (XAI)–powered genomic analysis platform that enables high-throughput interpretation with a 2–5x increase in efficiency and 50–75% reduction in total workflow time per subject.
Never a black box. Emedgene’s XAI prioritizes putative causative variants, backed by transparent evidence, to increase workflow efficiency and confidence. In a study with Baylor Genetics*, Emedgene’s XAI was shown to be 97% accurate (98% for trios) in prioritizing relevant insights. Highly accurate and transparent, XAI can automatically suggest variants for further review in complex data sets that would typically require hours of manual research.
Dr. Ray Louie, PhD
Assistant Director, Greenwood Genetic Center
By integrating with secondary analysis solutions such as DRAGEN™, data storage platforms such as Illumina Connected Analytics, and electronic health record (EHR) platforms, Emedgene offers a seamless and secure solution from sequencing through research report generation and beyond.
Emedgene scales WGS, WES, targeted panels, and virtual panels for variant interpretation across applications and variant types: single nucleotide variants (SNVs), insertions/deletions (indels), copy number variants (CNVs), mitochondrial DNA variants (mtDNA), structural variants (SVs), and short tandem repeats (STRs).
DRAGEN secondary analysis enables GeneDx to scale to whole-genome analysis and identify variants with precision.
Read ArticleThe Medical Genome Initiative consortium aims to expand access to high-quality clinical whole-genome sequencing for rare genetic diseases.
Read ArticleA randomized clinical trial examines the effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease.
Read ArticleWhole-genome sequencing is the most comprehensive test for rare disease, with the potential with the potential to uncover new breakthroughs in disease causality.
Learn MoreWhole Exome Sequencing is used to investigate protein-coding regions of the genome to uncover genetic influences on disease and population health.
Learn MoreOur technology is helping to drive breakthroughs in genetic disease research by facilitating faster insights.
Learn MoreHigh performance for sensitive applications such as human whole-genome sequencing.
Get scalable throughput and flexibility for virtually any sequencing method, genome, and scale of project.
Perform accurate, comprehensive, and efficient analysis of next-generation sequencing data.