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Simulating pedigrees ascertained for multiple disease-affected relatives.

Christina Nieuwoudt¹, Samantha J Jones^2,3, Angela Brooks-Wilson^2,4

¹1Department of Statistics and Actuarial Science, Simon Fraser University, 8888 University Drive, V5A 1S6, Burnaby, Canada.

Source Code for Biology and Medicine

|October 26, 2018

Summary

This summary is machine-generated.

Simulating pedigrees helps identify rare disease variants in families. The SimRVPedigree package aids researchers in understanding disease patterns and family ascertainment for genetic studies.

Keywords:

Anticipation Ascertainment bias Family-based study Pedigree simulation Rare variant

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Area of Science:

Genetics
Computational Biology
Statistical Genetics

Background:

Identifying rare causal variants is crucial for understanding genetic diseases.
Family studies with multiple affected relatives are valuable for variant discovery using next-generation sequencing.
Next-generation sequencing (NGS) data analysis benefits from robust family-based study designs.

Purpose of the Study:

To introduce SimRVPedigree, an R package for simulating pedigrees ascertained by multiple affected relatives.
To enable researchers to better understand within-family disease patterns and age of onset.
To improve the design and interpretation of family-based genetic studies.

Main Methods:

Development of the SimRVPedigree R package.
Simulation of pedigrees incorporating family ascertainment processes.
Analysis of simulated data to assess variant segregation and ascertainment bias.

Main Results:

Simulated rare disease variants lead to more numerous and closely clustered affected family members compared to sporadic disease.
Family ascertainment can create an illusion of anticipation in disease onset age.
Simulation provides insights into the proportion of families likely to segregate a causal variant.

Conclusions:

SimRVPedigree facilitates the study of family-based genetic data.
The package aids in understanding the impact of ascertainment on genetic analyses.
Researchers can use SimRVPedigree to optimize family study designs for rare variant identification.