Genomics Intelligence

Genomics Analysis Modules

Clinical variant interpretation, gene expression analysis, and genomic data integration.

Genomic Variant Annotation

Integrates population databases (gnomAD, ClinVar), in-silico prediction tools, and published clinical evidence for variant classification in accordance with ACMG guidelines.

  • ACMG-compliant variant classification with evidence aggregation
  • Reduction in manual literature curation time
  • Auditable decision trail with evidence provenance

Gene Expression Analysis

Processes RNA-seq data through normalized expression pipelines with integrated clinical annotation support for research cohort analysis.

  • Molecular subtype identification for research cohorts
  • Differential expression analysis with clinical variable correlation
  • Research-grade visualizations and export capabilities

Module Screenshots

Genomic Variant Annotation - Clinical variant browser with pathogenicity scores and population frequency data

Genomics Intelligence: Clinical variant annotation and interpretation

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