Use Cases

These scenarios demonstrate the calculator using hypothetical examples. Each walks through key steps - focusing on the reasoning behind each decision, not just the clicks.

For Research Use Only

This tool is intended for research and educational purposes. It is not a validated clinical diagnostic tool. Any outputs must be independently verified by qualified professionals before use in a clinical context.

The calculator supports multiple research workflows from carrier screening to text generation.

Scenarios

Each use case covers a different context and highlights a different set of calculator features.

Carrier Screening Example

A hypothetical scenario where one individual is a known CFTR carrier. Demonstrates searching for a gene, reviewing the variant table, and excluding a variant with disputed pathogenicity (c.1210-11T>G).

Key features: Variant table, individual variant exclusion, heterozygous carrier risk.

Text Generation

Demonstrates how to generate text output for documentation purposes using HFE as an example. Covers selective variant inclusion, German text generation with gender-inclusive language, and template customization.

Key features: Selective variant inclusion, German output, text perspectives, template sections.

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For a quick introduction to the calculator, see the Getting Started guide.