Illumina Genomics Research

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.

Discoveries & Publications

Recent Discoveries by Illumina Scientists

Accurate HBA and SMN genotyping within an integrated NGS workflow: A step toward accessible carrier screening

Here, we present updated versions of SMN and HBA targeted callers, released in DRAGEN v4.4, as well as a spike-in panel that can be used to supplement the Illumina DNA Prep with Exome 2.5 Enrichment panel to allow for accurate HBA and SMN genotyping on Illumina exomes.

NovaSeq X software update 1.3 improves data quality and customer usability

The first shipments of the NovaSeq X Series introduced XLEAP-SBS chemistry on Illumina’s next-generation high-throughput platform. With the 25B flow cell, NovaSeq X software update 1.2 enabled up to 16 terabases in a dual flow cell sequencing run. Software update 1.3 continues the evolution of the NovaSeq X platform by enabling significant improvements to data quality and instrument robustness.

Introducing constellation mapped read technology

Constellation technology utilizes a highly simplified NGS workflow that enables on-flow-cell library prep that completely eliminates standard library prep prior to sequencing. Standard cluster generation and SBS sequencing is combined with cluster proximity information in DRAGEN algorithms to unlock long-distance information. Early testing demonstrates enhanced mapping of challenging genomic regions, ultra-long phasing, and improved detection of large structural rearrangements.

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Informatics Tools

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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Podcasts

Metagenomics, COVID-19, & Emerging Pathogens

Robert Schlaberg and Lauge Farnaes 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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R&D Careers at Illumina

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.

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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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News & Events

Genomics News

The Jackson Laboratory advances precision medicine with an end-to-end workflow

How a world-renowned lab is using bioinformatics as a driving force for genetic discovery and molecular profiling services

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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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Happy International Women in Engineering Day!

Illumina honors the bright minds innovating and improving genomics technology every day

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Upcoming Events

May 6, 2025 – Dec 2, 2025

Illumina Innovation Days - Seminar

Jul 10, 2025

Introduction to MiSeq™ i100 Series - Webinar

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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.

Discoveries & Publications

Recent Discoveries by Illumina Scientists

Accurate HBA and SMN genotyping within an integrated NGS workflow: A step toward accessible carrier screening

NovaSeq X software update 1.3 improves data quality and customer usability

Introducing constellation mapped read technology

Informatics Tools

Open-Source Bioinformatics Tools

Developer Portal

Informatics Portfolio

Podcasts

Metagenomics, COVID-19, & Emerging Pathogens

Genomic Tumor Profiling and Precision Oncology

R&D Careers at Illumina

Join the best and brightest in the biotech industry. Collaborate with industry leaders, contribute to cutting-edge research, and ignite your passion for innovation.

Featured Opening

Bioengineer Career Profile

Bioinformatician Career Profile

News & Events

Genomics News

The Jackson Laboratory advances precision medicine with an end-to-end workflow

Efficient cloud data analysis for COPD multiomics project

Happy International Women in Engineering Day!

Upcoming Events

For every lab, everywhere

Illumina Single Cell 3' RNA Prep

NGS Workflow Finder

DRAGEN secondary analysis v4.4 now available

Illumina Proactive Instrument Performance Service

Do more, faster than ever

Next-generation sequencing for beginners

Next-generation sequencing for beginners

Next-generation sequencing for beginners

Next-generation sequencing for beginners

Next-generation sequencing for beginners

Next-generation sequencing for beginners

Next-generation sequencing for beginners

Illumina innovation roadmap

Illumina innovation roadmap

Illumina innovation roadmap

Illumina innovation roadmap

Illumina innovation roadmap

Illumina innovation roadmap

Illumina innovation roadmap

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

For every lab, everywhere

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.

Discoveries & Publications

Recent Discoveries by Illumina Scientists

Accurate HBA and SMN genotyping within an integrated NGS workflow: A step toward accessible carrier screening

NovaSeq X software update 1.3 improves data quality and customer usability

Introducing constellation mapped read technology

Illumina R&D innovation roadmap

Read peer-reviewed genomics publications by Illumina scientists

Informatics Tools

Open-Source Bioinformatics Tools

Developer Portal

Informatics Portfolio

Podcasts

Metagenomics, COVID-19, & Emerging Pathogens