gnomAD Carrier Frequency Docs

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Reference ​

Technical documentation for the calculator's methodology, data sources, filtering logic, and template system. Use this section as a reference when you need precise details about how calculations work or what options are available.

Sections ​

  • Methodology - Hardy-Weinberg calculations, carrier frequency derivation from allele frequencies, and recurrence risk formulas for different patient statuses
  • Data Sources - gnomAD version comparison, ClinVar pathogenicity classifications, and ClinGen gene-disease validity
  • Filters - Variant filtering options, default settings, LoF HC vs. missense distinction, and per-calculation overrides
  • Templates - Text template syntax, all 15 template variables, three perspectives, eight sections, and German gender-inclusive language styles

For a guided introduction to the calculator, see the Getting Started walkthrough. To see the reference concepts applied in example scenarios, see the Use Cases section.