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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 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

Building the ultimate RNA “body map” using comprehensive, deep transcriptome analysis

Four complementary RNA-Seq methods using hundreds of cell types and tissues produced the most comprehensive atlas of the human transcriptome to date.

Population-based metrics to stratify somatic variant calling performance

Sequencing quality is not uniform across the genome and impacts somatic variants calling. Here we quantify the performance gap between high-and low-quality regions.

Circulating RNA Sequencing Enables Noninvasive Monitoring of Dynamic Changes in Human Health

Illumina researchers developed a robust workflow for sequencing RNA in the blood, obtaining a noninvasive snapshot of whole-body health with the potential of transforming the future of diagnostics.

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.

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 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

Baby Fitz’s Life-Saving Diagnosis Through Whole-Genome Sequencing
Baby Fitz’s Life-Saving Diagnosis Through Whole-Genome Sequencing

How genomics provided critical answers—and in record time—to transform outcomes for a newborn and his family

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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 best-practice workflows that make analyzing, processing, and disseminating genomic data accessible to researchers and clinicians.

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How Genomics Will Support Gorilla Conservation
How Genomics Will Support Gorilla Conservation

An Illumina iConserve project is mapping genetic diversity to identify where confiscated gorillas come from and boost survival rates

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