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

Ultima Genomics UG 100 platform vs. Illumina NovaSeq X Series whole-genome sequencing benchmarking

In 2024, Ultima Genomics launched the UG 100 sequencing platform with bold performance and accuracy claims. To evaluate these claims, Illumina conducted a comparative analysis of the NovaSeq X Series and the UG 100 platform. This article details the results of the analysis.

An introduction to the Illumina 5-base solution

The Illumina 5-base solution provides a streamlined, end-to-end NGS library prep and analysis workflow for simultaneous methylation profiling and high-accuracy genetic variant calling.

Accurate HBA and SMN genotyping within an integrated NGS workflow: A step toward accessible carrier screening

Here, we present updated versions of SMN and HBA targeted callers, released in DRAGEN v4.4, as well as a spike-in panel that can be used to supplement the Illumina DNA Prep with Exome 2.5 Enrichment panel to allow for accurate HBA and SMN genotyping on Illumina exomes.

Research and innovation resources

Illumina R&D innovation roadmap

See the latest technology innovations that will power the next era of Illumina solutions.

Advancing genomic research with AI

Learn how artificial intelligence (AI) is transforming genomics by offering advanced tools to analyze and interpret complex genetic and multiomic data.

Genomics publications by Illumina scientists

Read peer-reviewed articles highlighting breakthroughs and advances in bioinformatics and clinical research from Illumina scientists.

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 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.

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.

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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

Leveraging proteomics to understand rare melanomas
Leveraging proteomics to understand rare melanomas

Illumina Protein Prep is giving University of Colorado researchers a powerful, unbiased tool to interrogate these unique conditions

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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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Celebrating milestones and the future of oncology in China
Celebrating milestones and the future of oncology in China

Industry leaders gathered at the Chinese Society of Clinical Oncology meeting to accelerate implementation of the country’s cancer solutions

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