Variant Analysis
Simplify genetic variant analysis
It is now easier than ever to extract biologically relevant information for genetic analysis and variant annotation
User-Friendly Software for Variant Analysis
When analyzing genetic variants, finding biologically meaningful information can pose a challenge. Intuitive data analysis platforms and access to curated variants with known biological associations can make it easier to manage the large volumes of genomic data that come with advances in next-generation sequencing.
Illumina tools provide variant annotation and analysis in a context that helps drive research forward. Our powerful variant analysis and reporting software tools aggregate information from a broad range of sources. Extensive filters and efficient categorization processes streamline assessment of biologically relevant variants.
Key Variant Analysis Software Features
Illumina strives to provide researchers with software that annotates and analyzes variants efficiently to help find answers and leverage biological data for future experimental designs. Our rich repositories of genotype-phenotype and evidence-based variant associations can help labs expedite interpretation of the biological impact of variants of interest.
Illumina variant analysis software offers several research-enhancing features:
- Intuitive user interfaces enable researchers without bioinformatics expertise to explore genomic data and analyze variants
- Comprehensive variant annotation from a broad range of sources
- Efficient variant-to-report workflows
- Customizable reporting
Comprehensive Variant Analysis for Rare Genetic Diseases
Simplify rare disease variant analysis and interpretation by calling, prioritizing, and reporting on variants using intuitive software designed for high-throughput labs using whole-genome, whole-exome, targeted, or virtual panel sequencing.
Solutions for Variant Annotation and Analysis
Emedgene software
This software streamlines variant interpretation for rare disease genomics and other germline research applications with explainable AI and automation.
Correlation Engine
This interactive omics knowledge base and data search engine puts private data into biological context with highly curated public omics data.
Illumina Connected Insights
This software provides streamlined variant interpretation for somatic oncology research applications and beyond.
Operationalize Informatics and Drive Scientific Insights with Illumina Connected Analytics
Operationalize bioinformatics workflows with sequencer integration, automatic analysis of customizable workflows, or out-of-the-box DRAGEN secondary analysis pipelines.
View ProductRelated Content
Human Whole-Genome Sequencing
This method provices unbiased, accurate coverage of the entire human genome and a detailed view into the genetic variants that encode human traits and disease.
Whole-Exome Sequencing
This method involves analyzing the protein-coding regions of the genome to uncover genetic influences on disease and population health.
High-Throughput Sequencing
Learn about the advantages of large-scale sequencing. Explore technology innovations, high-throughput sequencers, and data analysis options.
Additional Resources
Correlation Engine Overview Video
Correlation Engine offers a library of curated genomic data so researchers can validate results and test new hypotheses.
Sequencing Data Analysis
User-friendly Illumina tools smooth the process of analyzing sequencing data, so you can spend more time doing research and less time configuring workflows.
Integrating Variant Analysis and Clinical Data
As a result of the SUREKids project, two hospitals jointly developed clinical bioinformatics teams for a national sequencing program.
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