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

A deep catalog of whole-genome diversity from 233 primate species

We produced whole-genome sequences of 703 individuals from 233 different primate species, including representatives for almost half of all currently recognized species, and cover 86% of genera from all 16 families, representing by far the broadest taxonomic coverage of primate species to date.

Improving genetic risk prediction and drug target discovery using primate DNA and advanced artificial intelligence

PrimateAI-3D is a deep-learning network trained on 4.5 million common genetic variants from 233 primate species. This state-of-the-art classifier accurately quantifies missense variant pathogenicity in humans, which improves discovery of genes affecting clinical phenotypes.

Illumina Complete Long Reads software analysis workflow for human WGS

Learn how Illumina Complete Long Reads software generates accurate variant calling and phasing information to help resolve challenging genic regions.

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.

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

Addressing the genomics education gap
Addressing the genomics education gap

With limited space in the curricula for genomics, residents and physicians are turning to other sources for training

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Using analytics to improve cancer diagnosis and therapy selection
Using analytics to improve cancer diagnosis and therapy selection

Developing and automating workflows for analyzing, processing, and sharing genomic data among researchers and clinicians.

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CGP validated in triple-negative breast cancer patients
CGP validated in triple-negative breast cancer patients

Taiwanese study shows 500-gene panel detects actionable mutations and other critical biomarkers to open doors to advanced treatments

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