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

A Starring Role for Pharmacogenomics: Development and Verification of “Star Allele” Calling for 20 Critical PGx Genes Using Illumina’s DRAGEN Bio-IT Platform

In this post, we describe a WGS-based integrated PGx star allele caller for the 20 most critical PGx genes we embedded into Illumina’s DRAGEN 4.0 Bio-IT platform. We cover how the various methods work and demonstrate the pipeline’s effectiveness on both gold-standard and real-world data sets.

Fully Featured Genome: Expanding the Hunt for Genomic Variation with DRAGEN STR

There are now at least 56 different genes where short tandem repeats (STR) have been associated with human disease, including fragile X syndrome (FMR1 gene). Illumina’s DRAGEN Bio-IT platform includes STR genotyping using ExpansionHunter as an option for any samples with pfWGS data.

Overcoming the Diffraction Limit with Super-Resolution Optics to Increase Sequencing Cluster Density

The super-resolution imaging technique structured illumination microscopy can be adapted to increase and optimize the packing density of sequencing clusters.

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 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 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 Has Become a Powerhouse of the Chinese Genomics Industry
Illumina Has Become a Powerhouse of the Chinese Genomics Industry

Partnerships announced and agreements signed at the China International Import Expo 2022 present key opportunities for growth

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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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Increasing Genomic Capability in the United Arab Emirates
Increasing Genomic Capability in the United Arab Emirates

Dubai welcomes Illumina’s fifteenth Solutions Center

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