Risk Allele and Susceptibility Variant Extraction
Structured workflows for extraction and organization of risk-associated, low-penetrance, and susceptibility variants from public genomic resources and curated evidence datasets.
Designed to support laboratories performing structured genomic evidence review and population-associated variant assessment workflows.
Workflow Features
- Extraction of risk-associated and susceptibility variants from public genomic resources
- Structured organization of variant-level evidence and supporting metadata
- Review support for ClinVar risk-factor and association classifications
- Transcript-aware coordinate organization and variant normalization
- Support for GRCh37 and GRCh38 review contexts
- Structured tabular outputs suitable for internal laboratory review workflows
Why This Matters
Clinical laboratories are increasingly expected to consider variants associated with disease susceptibility in addition to traditional Mendelian pathogenic variants. The ClinGen Low-Penetrance/Risk Allele Working Group has highlighted the need for dedicated approaches to capture and evaluate this class of variants.
Resonance Genomics provides workflows that extract variants reported in resources such as the GWAS Catalog and ClinVar within genes of interest and compile structured tables linking genomic coordinates, database identifiers, and supporting publications, enabling laboratories to efficiently review and assess variants that may meet risk-allele criteria [4].
Structured Review Outputs
- Variant-level evidence summaries
- Risk-factor and association classification review
- Population-frequency summaries
- Transcript-aware coordinate organization
- Structured laboratory-oriented tabular outputs
Research Use Statement
These workflows are intended for research-use support and internal laboratory review only. Outputs are not designed for independent clinical interpretation, diagnostic reporting, or final clinical decision-making.
Discuss Workflow
RG workflows are designed to support laboratories performing structured genomic evidence review and population-associated variant organization workflows.