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Biological Interpretation/Tertiary Analysis

More than data: we empower understanding

Biological interpretation tools give you the power to turn genomic information into biological insight

From Genomic Data to Biological Insights

Applying biological interpretation methods allows you to derive insights into fundamental biological processes and the causes of genetic disease. From sequence data, you can use bioinformatics software and biological data mining approaches to convert data into knowledge.

Biological interpretation applies to individuals, related groups, and cohorts. We provide tools to support all these approaches. Our powerful turnkey informatics tools help you dig deeper into the biological data, validate results, and test new hypotheses.

Interpret Biological Variants

Variant detection typically reveals thousands or millions of variants. Finding the variants relevant to your biological or clinical research question requires automated tools that use the combined knowledge of published studies and collaborative research. See how we provide advanced variant interpretation capabilities to filter, annotate, and present the key variants for biological interpretation.

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Understand Population Data

Ultimately, biological variation can only be fully understood in the context of populations. Ongoing initiatives around the world aim to provide biological interpretation at population scale. Managing the vast volumes of data being created from studying entire populations requires sophisticated analytical and biological data mining capabilities. Learn more about how we can help support and advise on population genomics initiatives.

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Biological Interpretation for Specific Applications

It’s simpler when everything works well together. Tight integration between the sequencer, library prep, and informatics for lab operations and biological interpretation means you can have confidence in the results of focused sequencing applications. We offer several integrated solutions with biological interpretation tools for specific applications such as drug discovery, cancer research, genetic disease research, and single-cell analysis.

Immuno-oncology Informatics Tools

Improved informatics tools enable neoantigen discovery and tumor microenvironment analysis with Illumina sequencing applications.

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Specialized Uses of Bioinformatics

Microarray and next-generation sequencing (NGS) technologies are proving useful to increasingly diverse industries, requiring specialized bioinformatics applications for data analysis and interpretation.

Our software suite includes Illumina Connected Analytics and BaseSpace Sequence Hub, on which partners can build and deploy industry-specific analysis, visualization, and data science tools. DRAGEN Bio-IT provides ultra-rapid secondary analysis of next-generation sequencing (NGS) data. Through these practices, we support a broad and growing range of data analysis applications.


Pharma & Biotech Bioinformatics Applications

Drug discovery and development programs are enhanced with specialized bioinformatics analyses. BaseSpace Cohort Analyzer and BaseSpace Correlation Engine support translational research programs by providing access to curated genomic data, allowing correlation of private experimental results and testing of new hypotheses.

BaseSpace Cohort Analyzer maximizes clinical trial value by enabling researchers to assess the impact of therapies or drug effects in large subject populations.

Illumina Connected Analytics offers an economical and powerful computing environment to manage, analyze, and share sequencing data for a broad range of bioinformatics applications, including drug discovery and development research.

Cancer Research Bioinformatics

Illumina Connected Analytics allows researchers to aggregate, mine, and learn from large cohorts of data - using their own data, and data made publicly available.

BaseSpace Correlation Engine can mine genomic studies to get data-driven answers about cancer-related genes, experiments, drugs, and phenotypes.

The DRAGEN Bio-IT Platform, available on-premise or in the cloud via BaseSpace Sequence Hub, analyzes sequencing data from a variety of experiment types, including whole genomes, exomes, cancer germline and somatic datasets, and RNA sequencing.

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Single-Cell Sequencing Data Analysis Tools

Single-cell sequencing applications offer key insights into the functioning of individual cells, allowing a new level of resolution for biological researchers. Single-cell methods examine the genomes or transcriptomes of individual cells, enabling researchers to determine cell-specific contributions within complex tissues.

We provide comprehensive informatics solutions for single-cell applications including BaseSpace Sequence Hub and partner analysis apps. DRAGEN for single cell is available on board the NextSeq 2000, BaseSpace, and Illumina Connected Analytics.

Learn more about DRAGEN

Explore Illumina Connected Analytics and BaseSpace Sequence Hub on the Developer Portal.

Featured Biological Interpretation Content

Genomic Data Mining and Interpretation

See examples of distinguished universities and pharmaceutical companies that have cited BaseSpace Correlation Engine in peer-reviewed publications

Immuno-oncology Bioinformatics Tools

Improved informatics tools enable neoantigen discovery and tumor microenvironment analysis.

Single-Cell RNA Sequencing

Study cellular differences often masked by bulk sampling. Explore high- and low-throughput single-cell analysis methods.

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Other Specialized Bioinformatics Applications

The varied applications of Illumina bioinformatics software also include microarray data analysis, microbiology, agrigenomics, and more.


Microarray Data Analysis

Access bioinformatics tools for genotyping and methylation microarray experimental design, sample tracking, and data analysis applications. These solutions reduce time to answer, so you can spend more time doing research.

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Microbial Genomics

Gain critical genetic insights into bacteria, viruses, and other pathogens with a broad range of sequencing tools and bioinformatics applications.

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De Novo Assembly

Sequence organisms without a reference genome, such as novel microbes, animals, or plants. Choose from a variety of intuitive bioinformatics tools for sequence assembly.

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HLA Sequencing

HLA typing with NGS generates unambiguous, phase-resolved results using a single assay, system, and analysis program.

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Polyploid Organism Array Data Analysis

Perform genotyping data analysis of polyploid organisms such as wheat and potato using the Polyploid Genotyping Module in GenomeStudio.

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