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Variant Analysis

Simplify genetic 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

Solutions for Variant Annotation and Analysis

BaseSpace Variant Interpreter

This online cloud-based platform assesses variant significance by rapidly annotating, filtering, and interpreting genomic data.

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BaseSpace Correlation Engine

This web-based platform aids research designs by mining > 20,000 genomic studies to find data-driven answers for genes, experiments, drugs, and phenotypes.

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Illumina Connected Analytics

This cloud-based platform streamlines your entire analysis workflow with aggregation, mining and data science capabilities.

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Streamline Genomic Analysis with
BaseSpace Variant Interpreter

Learn how this software tool can help clinical research labs quickly identify, annotate, and classify disease-relevant variants and summarize significant findings in one report.

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Featured Bioinformatics Tools

BaseSpace Correlation Engine Overview Video

BaseSpace Correlation Engine offers a library of curated genomic data so researchers can validate results and test new hypotheses.

Cohort Analysis with BaseSpace Informatics

Translate complex genomic data into meaningful insights with BaseSpace Cohort Analyzer and BaseSpace Correlation Engine.

BaseSpace Knowledge Network Technical Note

Variant interpretation is simplified with organized biomarker content curated from large public databases.

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.