Carrier Screening Variant Interpretation
Expanded carrier screening panels now cover dozens to hundreds of conditions. As panel size increases, more variants require systematic evidence review. Folklore applies ACMG classification and population-aware frequency analysis across those panel sizes.
Carrier Screening at Scale
Expanded panels increase the number of conditions, variants, and population-frequency contexts that a reviewer must assess.
Variant Volume at Scale
Expanded carrier screening panels test for hundreds of conditions simultaneously, producing dozens to hundreds of candidate variants per individual. Each requires systematic evidence evaluation against population databases, clinical repositories, and functional predictions.
Population-Specific Frequencies
Carrier frequencies vary across populations. A variant common in Ashkenazi Jewish populations may be absent in East Asian populations. Interpretation therefore uses ancestry-specific allele frequencies alongside global averages.
Classification Nuance
Carrier screening operates in a different clinical context than diagnostic testing. Variants classified as VUS in a diagnostic setting may still be reportable in a carrier context depending on the condition, population, and clinical guidelines adopted by the laboratory.
Reporting Complexity
Carrier screening results can affect reproductive counseling. Reports therefore present the classification, population data, and supporting evidence in a structured form.
Carrier Screening Workflow
Upload carrier screening VCF
Standard VCF from any sequencing platform - targeted panel, exome, or genome.
Automated annotation and classification
Population frequencies, clinical significance, functional predictions, and ACMG criteria applied to every variant.
Clinical review of classified variants
The geneticist reviews Pathogenic and Likely Pathogenic findings with the applied criteria and evidence sources.
Generate carrier screening report
Structured report with classification, population data, and evidence attribution.
Genetic counseling
Report supports informed reproductive counseling with transparent, traceable findings.
Platform Capabilities for Carrier Screening
Full ACMG Classification for Every Variant
Carrier screening variants receive ACMG/AMP classification using 19 automated criteria, a Bayesian point framework, BayesDel ClinGen SVI-calibrated thresholds, and VCEP gene-specific specifications where available.
Population-Aware Frequency Analysis
gnomAD v4.1 provides global and population-specific allele frequencies across multiple ancestry groups. Folklore displays global frequency and population-maximum frequency (popmax) for each variant so the geneticist can assess it against the patient's reported ancestry.
Founder Variant Recognition
Established founder variants - including Ashkenazi Jewish founder mutations in HEXA (Tay-Sachs), BRCA1/2, CFTR, and others - are annotated through ClinVar integration with clinical significance assertions and review star quality levels. Disease associations from OMIM and ClinGen provide additional clinical context.
Gene-Specific VCEP Thresholds
For approximately 50-60 genes with published ClinGen VCEP specifications, gene-specific frequency thresholds and criterion modifications are applied automatically. This includes clinically important carrier screening genes such as CFTR, PAH, and BRCA1/BRCA2 (ENIGMA specifications).
Structured Reporting
Clinical reports present findings in structured sections with ACMG classification, evidence summary, population frequency data, and literature references. Reports are generated in PDF and DOCX formats suitable for inclusion in patient records and genetic counseling documentation.
Transparent Evidence Chains
Each classification records the applied ACMG criteria, database versions, and computational thresholds for review and reporting.
See Carrier Screening Classification
Review carrier-screening classification with ACMG evidence and population-specific frequency data.