Simulating Sequence Data for Pedigrees
Family-based studies have more power to detect rare variants, require smaller sample sizes, and can more accurately detect sequencing errors than case-control studies. However, data collection for these studies is both time consuming and expensive. Furthermore, we are unsure how existing methods to identify causal rare variants will perform for family-based studies of diseases with a sporadic component. To address these concerns, we expand on previous work on SimRVPedigree, an R package to simulate pedigrees ascertained for multiple disease-affected relatives, and demonstrate how it may be used with a coalescent simulator to simulate sequence data for these pedigrees. Time permitting, we will compare the performance of selected rare-variant methods to identify causal variants in sampled pedigrees.
Date and Time
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Language of Oral Presentation
English
Language of Visual Aids
English