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Cohort Analysis

VarLens supports aggregating variants across multiple cases for cohort-level analysis.

Cohort view showing aggregated variant data across cases

Switching to Cohort Mode

Use the mode toggle in the toolbar to switch between Case and Cohort views. Cohort mode aggregates all imported cases into a single table view.

Cohort Table

The cohort table shows:

  • Carrier count — Number of cases carrying each variant
  • Homozygous count — Cases with homozygous genotype
  • Affected carriers — Carriers with affected status
  • All standard variant columns (gene, consequence, scores, etc.)

Gene Burden Analysis

VarLens includes gene burden testing to identify genes with statistically significant variant enrichment:

  • Fisher's exact test — p-value, odds ratio, and 95% confidence interval
  • Logistic burden test — p-value and beta coefficient
  • FDR-adjusted q-values for multiple testing correction
  • Volcano plot and Manhattan plot visualizations of results

Filtering

Cohort view supports the same filtering capabilities as case view, plus additional cohort-specific filters for carrier count thresholds.