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

Unlocking the full potential of Illumina genomes: The journey to enhanced variant calling quality with DRAGEN informatics and high-quality sequencing

This blog presents an evaluation of DRAGEN's germline small variant calling accuracy over multiple versions. Since 2020, DRAGEN methods have eliminated 70% and 60% of variant calling errors against the precisionFDA Truth Challenge V2 and CMRG, respectively. These results position DRAGEN as a highly compelling solution for germline variant calling and its associated applications.

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.

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

Bridging the diagnosis gap for Canada’s Indigenous children
Bridging the diagnosis gap for Canada’s Indigenous children

The Silent Genomes Project is building a first-of-its-kind variant library for First Nations, Inuit, and Métis populations

Read Article
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.

Read Interview
A liquid biopsy study offers new hope for lung cancer patients
A liquid biopsy study offers new hope for lung cancer patients

The Welsh government launches a program aimed at accelerating diagnosis and improving clinical outcomes

Read Article

Upcoming Events

Check back later for upcoming events