shinyseg

shinyseg performs clinical cosegregation analysis to evaluate segregation evidence and specify penetrance using liability classes or epidemiological data such as risks, hazard ratios, and age of onset distributions.

Key Features:

• Penetrance specification: Specifies penetrance from liability classes or epidemiological inputs, including risks, hazard ratios, and age of onset distributions.
• Sensitivity analysis: Performs sensitivity analyses to assess the robustness of cosegregation evidence to variation in input parameters.
• Reliability assessment: Evaluates the reliability of cosegregation evidence under uncertain parameter estimates.
• Clinical interpretation support: Produces outputs to support clinical interpretation of segregation results for pathogenicity assessment.

Scientific Applications:

• Pathogenic variant assessment: Supports identification and assessment of pathogenic variants by analyzing how variants segregate within families.
• Hereditary disease analysis: Aids analysis of hereditary conditions by quantifying cosegregation to inform diagnostic processes and therapeutic strategies.

Methodology:

Specifies penetrance using liability classes or epidemiological data (risks, hazard ratios, age of onset distributions) and performs sensitivity analyses of cosegregation evidence.