Christina Nieuwoudt

This paper develops methods to prioritize rare variants in family-based sequencing studies with disease subtypes by comparing global and local approaches for variant prioritization.

SimRVSequences simulates genetic sequence data for pedigrees to evaluate methods for identifying causal rare variants in family-based studies.

The paper introduces SimRVPedigree, an R package for simulating pedigrees ascertained for multiple disease-affected relatives to study family-based study design.