Capture Design Review & Coverage Gap Assessment
Structured review workflows for evaluation of panel coverage completeness, exon representation, splice-adjacent regions, and clinically relevant intronic loci using current transcript frameworks and public genomic resources.
Review workflows are organized relative to MANE Select and MANE Plus Clinical transcript frameworks where applicable.
Workflow Features
- Review of exon-level and splice-adjacent coverage representation
- Evaluation of clinically relevant intronic loci curated from current ClinVar releases
- MANE Select and MANE Plus Clinical transcript-aware coordinate organization
- Configurable splice-region and exon-padding review (e.g., ±10–20 bp)
- Identification of coding regions with incomplete or absent panel representation
- Structured review outputs suitable for laboratory panel optimization and assay-review workflows
- Support for GRCh37 and GRCh38 review contexts
Why This Matters
Targeted sequencing workflows may evolve over time as transcript frameworks, reference assemblies, and clinically relevant intronic findings continue to expand. Manual review of exon completeness, splice-adjacent regions, and deep intronic loci across large gene sets can become increasingly time-consuming. Increasing recognition of clinically relevant noncoding and deep intronic variants may also create additional pressure on panel review and target-region assessment workflows.
RG Capture Review workflows are designed to support structured assessment of panel representation and potential coverage gaps while allowing existing internal laboratory review and assay-validation workflows to remain in place.
Structured Review Outputs
- Exon-level representation and coverage-gap summaries
- Clinically relevant intronic locus inclusion review
- Splice-adjacent region assessment
- Transcript-aware coordinate mapping
- MANE-aligned target organization
- Structured tabular outputs for laboratory review workflows
Research Use Statement
This workflow is intended for research-use support and internal laboratory review only. Outputs are not designed for diagnostic reporting, independent clinical decision-making, or final clinical interpretation.
Discuss Workflow
RG workflows are designed to support laboratories performing panel review, assay optimization, and structured genomic evidence organization.