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

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.

A starring role for pharmacogenomics: development and verification of “star allele” calling for 20 critical PGx genes using the DRAGEN Bio-IT platform

We describe a WGS-based integrated PGx star allele caller for the 20 most critical PGx genes we embedded into the 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.

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.

View Open-Source Tools

Developer Portal

Start with powerful Illumina software, then use the APIs to customize your workflow from sample to insight.

Visit Portal

Informatics Portfolio

Our comprehensive software tools offer rapid, accurate secondary analysis, flexible and secure data storage, scalable infrastructure, and more.

View Portfolio

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.

Featured Opening

Bioinformatics Positions

Bioengineer Career Profile

Find out what Erin Fang works on, who she works with, and what motivated her to pursue bioengineering.

View Video

Bioinformatician Career Profile

Find out how Daniel Brami spends his average day, and where he sees bioinformatics going in five years.

View Video

Genomics News

Sequencing the Sustainable Secrets of Seaweed
Sequencing the Sustainable Secrets of Seaweed

A Brazilian consortium is finding solutions to food insecurity in one of Earth’s oldest life forms

Read Article
Scaling up with less bias, with Illumina Stranded mRNA Prep
Scaling up with less bias, with Illumina Stranded mRNA Prep

Dr. Jongsuk Chung explains how using Illumina Stranded mRNA Prep is enabling Geninus Inc. to scale the scope of their research with less bias than other market alternatives.

Read Interview
Does Your Dog Have Nine Lives, Too? This DNA Test Can Tell You
Does Your Dog Have Nine Lives, Too? This DNA Test Can Tell You

Animal shelters often have to estimate a dog’s age, which may compromise their health care. Embark Veterinary takes out the guesswork.

Read Article