Illumina Genomics Research

Illumina Research and Innovation

At Illumina, innovation and research align with a commitment to scientific access, data, and community. These values underpin our leadership in genomics research and clinical applications.

Our scientists help drive progress in how we aggregate, analyze, and interpret genomic data for meaningful insights. Illumina research fuels innovative ways to study, diagnose, and treat disease. Explore some of our latest efforts here.

Recent Discoveries by Illumina Scientists

Overcoming the challenges in PMS2 high-homology regions for improved detection of pathogenic variants associated with Lynch syndrome

Pathogenetic small-variant detection in the PMS2 gene related to Lynch syndrome is confounded by the pseudogene PMS2CL, but DRAGEN 4.3 introduces a refined algorithm for empowering small-variant detection in PMS2 using whole-genome sequencing. By applying this approach on 22 non-cell-line samples, all expected P/LP variants are detected, and this method is extensible to other genes with single- or multi-copy paralogues.

Whole-genome sequencing for Duchenne muscular dystrophy

People with little or no DMD gene activity have Duchenne muscular dystrophy, a severe, progressive, muscle-wasting disease. Classic symptomatic interventions, such as braces and corticosteroids, are beginning to give way to precision medicine approaches, including gene therapy. In this article, we describe the development of a single NGS-based assay to detect all DMD variant types, including CNV and sequence variants.

Unveiling Illumina Connected Annotations: A breakthrough in genomic annotation

Annotating genomic variants is a complex process, and commonly used tools in this space have accuracy and/or scaling limitations. Newly added to Emedgene, and available in DRAGEN Secondary Analysis, Illumina Connected Annotations provides exceptional performance in this field. Top population studies, including All of Us and UK Biobank, rely on this tool.

Find open-source software, access developer resources, or explore our entire informatics portfolio.

New to data analysis? Visit our NGS data analysis page.

Open-Source Bioinformatics Tools

Explore a broad range of free open-source software tools provided and maintained by Illumina.

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Developer Portal

Start with powerful Illumina software, then use the APIs to customize your workflow from sample to insight.

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Informatics Portfolio

Our comprehensive software tools offer rapid, accurate secondary analysis, flexible and secure data storage, scalable infrastructure, and more.

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Metagenomics, COVID-19, & Emerging Pathogens

Robert Schlaberg and Lauge Farnaes from IdByDNA discuss use of metagenomics to identify emerging pathogens.

Genomic Tumor Profiling and Precision Oncology

Dr. Rachel Sanborn of the Providence Cancer Institute explains how genomics technologies are empowering precision oncology.

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Whether you're interested in basic genomics research, bioinformatics, engineering, or clinical product development, join us and make a difference. View our career profile videos to learn more about what it’s like to work at Illumina, or search current job openings.

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Bioinformatics Positions

Bioengineer Career Profile

Find out what Erin Fang works on, who she works with, and what motivated her to pursue bioengineering.

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Bioinformatician Career Profile

Find out how Daniel Brami spends his average day, and where he sees bioinformatics going in five years.

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Genomics News

Expanding hope to more families with rare diseases in China
Expanding hope to more families with rare diseases in China

The Illumina iHope China program will provide 1800 families with genetic testing in 2024, broadening its reach and impact nationwide

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Efficient cloud data analysis for COPD multiomics project
Efficient cloud data analysis for COPD multiomics project

Researchers at Okayama University in Japan use Illumina Connected Analytics with DRAGEN pipelines for analyzing whole-genome, exome, transcriptome, and metagenome data

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Illumina helps pioneering health systems deliver precision medicine
Illumina helps pioneering health systems deliver precision medicine

At a private summit, Illumina convened a group of health system leaders to discuss strategies for implementing genomics into clinical care

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Jul 7, 2024 – Jul 10, 2024