The Overview tab provides a dashboard view of your case with charts and summary statistics at a glance. Navigate to it by clicking the Overview tab after opening a case.
Pathogenicity distribution
A donut chart displays the breakdown of your variants by pathogenicity classification. The chart shows the total variant count at the center and segments for each category:
- Pathogenic (red)
- Likely Pathogenic (orange)
- VUS — Variants of Uncertain Significance (yellow)
- Likely Benign (light green)
- Benign (green)
Hover over any segment to see the exact count and percentage.
Variant location
A donut chart shows the genomic distribution of your variants across different regions — exonic, intronic, intergenic, UTR, and splice site regions. This helps you understand where in the genome your variants are concentrated.
Read depth distribution
A bar chart visualizes the sequencing coverage depth across your sample. The x-axis shows depth ranges and the y-axis shows the number of variants at each depth. This helps identify whether your data has sufficient coverage for confident variant calling.
A summary card displays key case metadata:
- Case type (e.g., “Single Inherited Disease”)
- Patient demographics (sex, ethnicity, date of birth)
- Sample information (specimen type, collection date)
Findings summary
A summary section shows the count of curated findings organized by category:
| Category | Description |
|---|
| Primary | Variants directly related to the patient’s presenting phenotype |
| Causal | Variants confirmed as causing the patient’s condition |
| Secondary | Variants related to the case but not the primary explanation |
| Incidental | Variants in medically actionable genes discovered during analysis |
Use the Overview tab as your starting point when opening a case. The charts give you an immediate sense of the variant landscape before diving into detailed analysis.
