Illumina, Inc.  

San Diego,  CA 
United States
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For more than 20 years, Illumina has aspired to improve human health by unlocking the power of the genome. Now, through innovation and collaboration with genetic counselors, health care providers, and laboratories, we are enabling genomic breakthroughs and helping simplify the patient diagnostic odyssey with whole-genome sequencing. While the rate of progress continues to accelerate exponentially as we move forward towards precision medicine, we have only just begun to discover the true impact of genomics. This realization, and the discoveries we know lie ahead for rare and undiagnosed genetic diseases, are what inspire us to push the boundaries of our imagination and drive innovation.


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 Press Releases

  • Click here to read this customer interview on a landmark NGS study that lead to a national clincial diagnostic exome sequencing platform in Singapore.

    NGS Identifies Rare Disease Variants in Infants with Undiagnosed Disease

    Landmark NGS study leads to a national clinical diagnostic exome sequencing platform in Singapore.

    After receiving his MD from the National University of Singapore (NUS), cardiologist Roger Foo underwent higher specialist training at the University of Cambridge, and started research into the epigenetic regulation of gene expression in heart failure. The power of next-generation sequencing (NGS) became apparent as Dr. Foo began using NGS systems to perform RNA-Seq and ChIP-Seq on patient heart muscle samples. It was clear that clinical researchers throughout the world were using NGS more broadly for the identification of disease-associated DNA variants and as an integral part of clinical translation studies. When he returned to Singapore, Dr. Foo became a vocal advocate for the broader use of NGS in the clinic.

    Founding a cardiac genetic service for Mendelian-associated monogenic cardiac diseases in adults provided the first step to raise awareness of the value of NGS among his peers. He proceeded to collaborate with his pediatric colleagues through a Biomedical Research Council (BMRC)-funded Rare Undiagnosed Disease program to make clinical exome sequencing available to children. About 1% of all babies born in Singapore have potential genetic conditions.1 Some are immediately recognizable by pediatricians, including trisomies and less complex syndromes. Others are more complicated congenital conditions, including those with developmental delay or intellectual disability, that might become apparent only in the weeks and months after birth. Rare undiagnosed diseases provided the perfect entry point to bring NGS into more routine use for clinical translation in Singapore. Together with pediatricians from Singapore National University Hospital (NUH) Kids and KK Women’s and Children’s Hospital, he established the Singapore Undiagnosed Diseases Research program for Kids (SUREKids). Using NGS to sequence babies with rare undiagnosed disease provides the SUREKids team with an opportunity to find a possible genetic diagnosis for these children’s conditions.

    iCommunity spoke with Dr. Foo about SUREKids, the results that have been obtained so far, building an NGS analysis and data storage infrastructure within Singapore, and growing Singapore government support for NGS clinical studies.

    Click here to read the full interview.

    For more information on Whole Genome Sequencing and Rare Disease, check out this Global Patient Advocacy Resource.


  • DRAGEN Bio-IT Platform
    The Illumina DRAGEN (Dynamic Read Analysis for GENomics) Bio-IT Platform provides accurate, ultra-rapid secondary analysis of sequencing data....

  • The DRAGEN Platform enables labs of all sizes and disciplines to do more with their genomic data. The DRAGEN Platform uses highly reconfigurable field-programmable gate array technology (FPGA) to provide hardware-accelerated implementations of genomic analysis algorithms, such as BCL conversion, mapping, alignment, sorting, duplicate marking, and haplotype variant calling. Fundamental features of the DRAGEN Platform address common challenges in genomic analysis, such as lengthy compute times and massive volumes of data.

    Without compromising accuracy, the DRAGEN Platform delivers quickness, flexibility, and cost efficiency. The reprogrammable nature of the DRAGEN Platform enables Illumina to develop custom algorithms and allows for improvements to accommodate future applications.

    Click here to learn more:

  • NovaSeq 6000 Sequencing System
    The NovaSeq 6000 Sequencing System unleashes groundbreaking innovations that leverage our proven technology. Now you can get scalable throughput and flexibility for virtually any sequencing method, genome, and scale of project....

  • The NovaSeq 6000 System offers high-throughput sequencing across a broad range of applications. Meet your research needs with unprecedented throughput at the lowest cost per sample.  The NovaSeq 6000 System provides tremendous scalability and flexibility to accommodate diverse applications and project sizes, while achieving maximum operational efficiency. Users can run 1 or 2 flow cells at a time and choose between 3 flow cell types, easily adjusting output for each sequencing run. With highly tunable data output you can run virtually any genome, sequencing method, and scale of project.  It offers fully automated, onboard cluster generation to minimize hands-on time. Integrated, ready-to-use reagent cartridges streamline run setup and prevent improper loading. RFID encoded consumables enable fully automated reagent traceability. In all, it takes only minutes to set up a run on the NovaSeq 6000 System, giving you increased lab efficiency.

    Click here to learn more:

  • NextSeq 550Dx
    NextSeq 550Dx is FDA-regulated & CE-in vitro diagnostic marked, enabling clinical labs to develop & perform a wide range of applications, from NGS IVD assays with targeted panels, to clinical research applications, from targeted panels to whole genomes....

  • Work within a regulated sequencing workflow for developing diagnotic tests and leveraging future NGS IVD tests in the pipeline, while retaining the flexibility to work in a research environment and use the full range of Illumina sequencing methods for a wide range of applications.  The instrument and sequencing reagents are all regulated by the FDA, developed under design control principles, manufactured under Current Good Manufacturing Practices (cGMPs), and verified for consistent assay performance.

    Click here to learn more:

  • TruSight Cystic Fibrosis
    FDA-cleared, CE-IVD-marked next-generation sequencing test that conveniently provides two cystic fibrosis testing assays in one product...

  • With TruSight Cystic Fibrosis, you can choose between running the TruSight Cystic Fibrosis 139-Variant Assay or the TruSight Cystic Fibrosis Clinical Sequencing Assay, all from one library preparation.

    TruSight Cystic Fibrosis library prep provides a fully integrated molecular CF testing solution on the MiSeqDx instrument. Simply prepare up to 96 libraries from 250 ng gDNA and load onto the MiSeqDx instrument for sequencing. On-board Local Run Manager software provides test analysis and report generation.

    Click here to learn more:

  • TruSight Hereditary Cancer Panel
    Expert-defined content targeting 113 genes associated with genetic cancer risk predisposition...

  • The TruSight Hereditary Cancer Panel content was selected based on feedback from key opinion leaders on genetic risk assessment.  The panel Includes 10,341 probes that target 113 genes related to cancer predisposition. Furthermore, the panel includes 125 SNPs. Of these, 48 are ID SNPs and 77 are used for polygenic risk scoring (PRS).  In combination with Nextera Flex for Enrichment, TruSight Hereditary Cancer Panel enables genetic labs to prepare hybrid capture sequencing libraries in 6.5 hours with limited hands on time of ~2 hours.

    TruSight Accommodates flexible workflows and is compatible with different sources of samples such as genomic DNA, saliva (Oragene tubes) or blood (Flex Lysis Reagent). It is compatible with all Illumina benchtop sequencers, and allows for maximum flexibility for batching from 2 to 256 samples.

    Click here to learn more:

  • TruSight Oncology 500 ctDNA
    Assay targeting multiple somatic variant types from plasma, including microsatellite instability (MSI) and tumor mutational burden (TMB)...

  • An NGS-based assay that assesses multiple variant types in 523 cancer-related genes from cell-free DNA (cfDNA). Leveraging the power of the NovaSeq 6000 System for high depth of sequencing, unique molecular identifiers (UMIs), and the ultra-rapid Illumina DRAGEN Server v3, provides high sensitivity and specificity to enable comprehensive genomic profiling from cfDNA.

    Click here to learn more:

  • TruSight Software Suite
    Supporting Variant Analysis in Rare Disease...

  • Next-generation sequencing (NGS) is becoming commonplace when seeking a diagnosis for rare genetic disease. This can create a bottleneck when analyzing and interpreting the billions of base pairs and millions of variants in the genome. Introducing a new suite of software tools to streamline this important analysis. Designed to provide comprehensive information seamlessly at your fingertips—the TruSight™ Software Suite enables informed analysis and empowered interpretation.

    Click here to learn more:

  • Non-invasive Prenatal Testing (NIPT)
    It’s time for NIPT!...

  • With a simple maternal blood draw, NIPT can noninvasively screen for the presence of fetal chromosomal aneuploidies as early as week 10. With higher detection rates for T21, T18, and T13, NIPT is more accurate than conventional prenatal serum screening—and has a lower false positive rate. 

    Click here to learn more: