Illumina DRAGEN Secondary Analysis Integrations

Amazon Web Services (AWS) is a global leader in cloud computing, providing the broadest and deepest set of cloud capabilities on the market. From compute and storage to advanced analytics, AI, and agentic automation, AWS enables organizations to build, scale, and transform their businesses. Enterprises rely on AWS for secure, compliant infrastructure while startups leverage it to launch quickly and innovate without heavy upfront costs. The platform’s extensive service catalog includes solutions for machine learning (Amazon SageMaker), serverless computing (AWS Lambda), global content delivery (Amazon CloudFront), and managed databases (Amazon DynamoDB). With the launch of Amazon Q Developer and AWS Transform, AWS is also pioneering the next wave of agentic AI and modernization technologies. Its infrastructure spans 120 availability zones in 38 regions, with expansion plans into Saudi Arabia, Chile, and Europe’s Sovereign Cloud, guaranteeing unmatched global reach. Customers benefit from real-time scalability, security trusted by the world’s largest enterprises, and automation that streamlines complex operations. AWS is also home to the largest global partner network, marketplace, and developer community, making adoption easier and more collaborative. Training, certifications, and digital courses further support workforce upskilling in cloud and AI. Backed by years of operational expertise and constant innovation, AWS continues to redefine how the world builds and runs technology in the cloud era.

Emedgene enhances the processes associated with tertiary analysis in the fields of rare disease genomics and various germline research projects. The platform is designed to improve the speed and consistency of interpreting, prioritizing, curating, and producing research reports on user-defined variants. By utilizing explainable AI (XAI) and automation, Emedgene significantly increases efficiency across a range of analysis workflows, including genomes, exomes, virtual panels, and targeted panels. It also aids in merging laboratory operations and next-generation sequencing (NGS) instruments with IT systems, thereby optimizing and securing the entire workflow. As science and technology continue to evolve alongside growing demands, Emedgene provides users with the latest advancements through innovative knowledge graph features, curation tools, and expert assistance throughout their research endeavors. Additionally, laboratories can enhance their throughput without needing to hire extra personnel, thanks to the capabilities of XAI and automated systems. Ultimately, Emedgene supports the implementation of high-throughput workflows for whole genome sequencing (WGS), whole exome sequencing (WES), virtual panels, or targeted panels, all of which seamlessly integrate into the digital infrastructure of any laboratory. This holistic approach ensures that researchers can dedicate their efforts to uncovering new insights while benefiting from reliable technological support that evolves with their needs. By streamlining these complex processes, Emedgene empowers researchers to maximize their potential and drive impactful discoveries in genomics.

Effectively manage, store, and collaborate on multi-omic datasets with ease. The Illumina Connected Analytics platform provides a secure environment for genomic data, enabling the operationalization of informatics and the extraction of valuable scientific insights. Users have the convenience of importing, creating, and modifying workflows using tools like CWL and Nextflow. The platform integrates DRAGEN bioinformatics pipelines, which enhance data processing capabilities. You can securely organize your data within a protected workspace that allows for global sharing while adhering to compliance standards. Retain your data on your own cloud infrastructure while taking advantage of our powerful platform. A versatile analysis environment, including JupyterLab Notebooks, is available for visualizing and interpreting your data effectively. With a scalable data warehouse, you can aggregate, query, and analyze both sample and population data, adapting to your growing needs. By constructing, validating, automating, and deploying informatics pipelines efficiently, you can significantly reduce the time required for genomic data analysis, which is crucial when rapid results are necessary. Additionally, the platform offers extensive profiling capabilities to discover novel drug targets and pinpoint biomarkers for drug response. Lastly, you can seamlessly integrate data from Illumina sequencing systems, ensuring a smooth and efficient workflow experience while optimizing your research outcomes. This comprehensive approach not only enhances productivity but also fosters collaboration among researchers.

Effective data management and optimized bioinformatics solutions are crucial for labs embarking on or scaling their next-generation sequencing (NGS) efforts. At the heart of the BaseSpace Suite, BaseSpace Sequence Hub acts as a fluid extension of your Illumina equipment. By ensuring secure data transfer from the instrument to BaseSpace Sequence Hub, you can easily manage and analyze your data with a handpicked range of analytical applications. Utilizing Amazon Web Services (AWS) for its infrastructure, BaseSpace Sequence Hub emphasizes data security while enabling you to launch sequencing runs and monitor the performance quality of your devices. The platform increases operational efficiency by converting sequencing data into a uniform format and permitting direct cloud streaming. Moreover, it grants access to computational resources without the burden of heavy investments in local infrastructure. This solution enhances productivity within organizations by offering easy entry to numerous genomic analysis applications developed by Illumina or third-party providers, making it indispensable for any laboratory. Consequently, BaseSpace Sequence Hub not only streamlines laboratory workflows but also promotes innovative advancements and expansion within the field of genomic research. Ultimately, it empowers labs to focus on scientific discovery while minimizing the complexities associated with data management.

The Correlation Engine is an interactive omics knowledgebase that integrates private omics information within a comprehensive biological context, enriched by carefully selected public datasets. Established as one of the largest biological databases around, it provides life science researchers with exceptional access to a vast array of high-quality whole-genome analyses, accompanied by advanced scientific tools. This platform promotes innovative discoveries by allowing users to delve into billions of data points gathered from standardized whole genome study evaluations. It includes a variety of applications designed to discern biological relevance, a perpetually growing repository of curated datasets, and adaptability across different species and multi-omic contexts. Researchers benefit from an easy-to-use graphical user interface that supports guided workflows, one-click applications, and application programming interfaces (APIs). By facilitating the conversion of omic data into actionable insights, the platform empowers users to explore over 25,000 multi-omics studies stemming from more than 250,000 unique signatures that have been reanalyzed, significantly bolstering their research endeavors. This extensive resource not only enhances the research process but also encourages collaboration among scientists striving for breakthroughs in the life sciences.