Comparison of collapsing methods for the statistical analysis of rare variants

@article{Dering2011ComparisonOC,
  title={Comparison of collapsing methods for the statistical analysis of rare variants},
  author={Carmen Dering and Andreas Ziegler and Inke Regina K{\"o}nig and Claudia Hemmelmann},
  journal={BMC Proceedings},
  year={2011},
  volume={5},
  pages={S115 - S115}
}
Novel technologies allow sequencing of whole genomes and are considered as an emerging approach for the identification of rare disease-associated variants. Recent studies have shown that multiple rare variants can explain a particular proportion of the genetic basis for disease. Following this assumption, we compare five collapsing approaches to test for groupwise association with disease status, using simulated data provided by Genetic Analysis Workshop 17 (GAW17). Variants are collapsed in… 
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