Illumina Genomics Research

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.

Discoveries & Publications

Recent Discoveries by Illumina Scientists

Genotyping variants at population scale using DRAGEN gVCF Genotyper

In this article, we give an overview of the gVCF Genotyper workflow, show how to deploy it at scale, and demonstrate the performance of the DRAGEN gVCF Genotyper using the 1000 Genomes Project cohort.

Using DRAGEN for Gaucher and Parkinson disease research: resolving GBA1 variants using PCR-free whole-genome sequencing

What is the GBA1 gene and why does it matter? This blog summarizes why GBA1 is a challenging gene to evaluate and how DRAGEN resolves these challenges, with performance data on its GBA1 targeted caller.

Using whole-genome sequencing to evaluate copy number variants of the LPA Kringle-IV type 2 domain with DRAGEN

The DRAGEN KIV-2 caller improves the state of the art in LPA characterization and reveals important insights about the region’s variability. While challenges remain in fully comprehending KIV-2 variation, this software will provide a valuable tool for enhanced LPA and CVD research.

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Informatics Tools

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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Podcasts

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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R&D Careers at Illumina

Join the best and brightest in the biotech industry. Collaborate with industry leaders, contribute to cutting-edge research, and ignite your passion for innovation.

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.