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

Technical spotlight: Detecting small- and medium-length copy number variants by whole-genome sequencing

Historically, detecting different sizes of genetic variants has required using multiple different tests. By combining Illumina WGS with secondary analysis algorithms built into the DRAGEN Bio-IT Platform, researchers can achieve high-sensitivity detection of all these different variant types using a mixture of methods described here.

Inside DRAGEN and what enables efficient secondary analysis at scale

The Illumina DRAGEN secondary analysis pipeline has been established as a trusted, comprehensive, accurate, and fast solution that helps NGS users retrieve maximal information out of their data. DRAGEN analysis onboard the NovaSeq X offers a unique, cost-effective way for users to analyze the enormous amount of data generated.

XLEAP-SBS chemistry enables Q40 and above data quality on NovaSeq X and NextSeq 1000/2000

In this article, we highlight the improvements to sequencing and calibration workflows that enable the NovaSeq X to deliver 85% of bases in the highest quality bin (Q40) with excellent correlation to empirical accuracy; the use of PCR-free library preps in the Q-score calibration process; and the data management and cost benefits of quantizing the Q scores to three bins.

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.

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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 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

Reaching new heights in data quality and throughput on a benchtop sequencer
Reaching new heights in data quality and throughput on a benchtop sequencer

At AGBT 2024, Illumina presented several studies, highlighting improvements to NextSeq Systems and more

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Efficient cloud data analysis for COPD multiomics project
Efficient cloud data analysis for COPD multiomics project

Researchers at Okayama University in Japan use Illumina Connected Analytics with DRAGEN pipelines for analyzing whole-genome, exome, transcriptome, and metagenome data

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Inside the UK’s largest life sciences event
Inside the UK’s largest life sciences event

Illumina leaders and other industry experts convene in London for the ninth annual Festival of Genomics & Biodata

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Upcoming Events

Mar 12, 2024 – Mar 16, 2024