ClinVar variant analysis and genome annotation with a distributed worker architecture. From raw genomic data to actionable clinical reports.
Data flows through a multi-stage pipeline from ingestion to clinical report generation.
Five specialized workers handle different stages of genomic processing.
| Worker | Role | Description |
|---|---|---|
| Orchestrator | Coordination | Manages pipeline execution, task scheduling, and worker coordination |
| Pipeline | Processing | Executes the core annotation pipeline stages and data transformations |
| Annotation | Enrichment | ClinVar lookups, variant classification, and functional annotation |
| Ancestry | Analysis | Population frequency analysis and ancestry inference from variant data |
| Report | Output | Generates structured clinical reports with variant interpretations |
Comprehensive genomic analysis capabilities.
Direct integration with NCBI ClinVar database for variant clinical significance lookups and pathogenicity classification.
Five specialized workers process genomic data in parallel, enabling efficient handling of large-scale variant datasets.
Automated generation of structured clinical reports with variant interpretations, population frequencies, and evidence summaries.
Population-level frequency analysis and ancestry inference using gnomAD and 1000 Genomes reference datasets.
Fault-tolerant pipeline orchestration with automatic retries, checkpointing, and progress tracking across all stages.
Supports VCF, GVCF, and BED file formats. Outputs JSON, TSV, and formatted PDF clinical reports.
Connected infrastructure and tools.