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

Introducing the HP Advanced Custom Recipe for NextSeq 1000/2000 XLEAP-SBS P3 and P4 300 cycle kits

Our research teams have developed this recipe through a modification in the standard clustering protocol to improve sequencing in difficult-to-read regions. It may be of interest to users who need higher variant calling performance in certain classes of repetitive sequences for research purposes, and we have therefore released it on our Advanced Research Protocols portal.

The quest for accuracy gains in the dark regions of the genomes: Presenting the DRAGEN multigenome mapper and pangenome reference updates in version 4.3

With the DRAGEN v4.3 release, we introduce the second-generation multigenome mapper. This article discusses the evolution of its methodology using pangenome references and shows the significant accuracy improvement both in the All Benchmark Regions and Difficult-to-Map Regions of the genome, with the second-generation multigenome mapper and the most recent 128-samples pangenome reference.

Overcoming the challenges in PMS2 high-homology regions for improved detection of pathogenic variants associated with Lynch syndrome

Pathogenetic small-variant detection in the PMS2 gene related to Lynch syndrome is confounded by the pseudogene PMS2CL, but DRAGEN 4.3 introduces a refined algorithm for empowering small-variant detection in PMS2 using whole-genome sequencing. By applying this approach on 22 non-cell-line samples, all expected P/LP variants are detected, and this method is extensible to other genes with single- or multi-copy paralogues.

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 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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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

The emerging population genomics revolution
The emerging population genomics revolution

Around the world, countries are racing to develop nationwide sequencing programs to address their specific health needs

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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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Zurich lab imagines new possibilities in microbial research and diagnostics
Zurich lab imagines new possibilities in microbial research and diagnostics

In the fast-moving, ever-evolving field of medical microbiology, a team of scientists gets a boost from the new Illumina MiSeq i100

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