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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 genomic 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

Accurate and Efficient Calling of Small and Large Variants from PopGen Datasets Using The DRAGEN Bio-IT Platform

The DRAGEN platform calls both small and large variants from population genetics studies with high precision and speed.

DRAGEN Wins at PrecisionFDA Truth Challenge V2 Showcase Accuracy Gains from Alt-aware Mapping and Graph Reference Genomes

DRAGEN recently won the PrecisionFDA Truth Challenge V2 contest for Illumina reads in the Difficult-to-Map and All-Benchmark Regions categories.

Spinal Muscular Atrophy Diagnosis and Carrier Screening from Whole Genome Sequencing Data

SMNCopyNumberCaller enables accurate copy number calling of the highly similar SMN1 and SMN2 for spinal muscular atrophy diagnosis/carrier screening.

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

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

Illumina GitHub

Explore a broad range of open source software 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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Surveillance and Testing for SARS-CoV-2

Christopher Mason from Weill Cornell Medicine discusses his multifaceted approach to COVID-19 testing.

Genomics and the End of the Diagnostic Odyssey

Learn how whole-genome sequencing can short-circuit the diagnostic odyssey for patients with rare diseases.

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.

Featured Openings

Bioinformatics Scientist 2 - oncology & ctDNA

Bioinformatics Scientist

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

Illumina and Microba Life Sciences Partner to Accelerate Microbiome Research
Illumina and Microba Life Sciences Partner to Accelerate Microbiome Research

Partnership allows researchers to sequence hundreds of organisms - processing data faster and at larger volumes

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The Australian Genome Research Facility (AGRF)

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A Golden Age for China’s NGS Industry
A Golden Age for China’s NGS Industry

At Illumina’s first NGS Summit in Shanghai, genomics leaders discuss the future of oncology and healthcare

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