An application and empirical comparison of statistical analysis methods for associating rare variants to a complex phenotype

Pac Symp Biocomput. 2011:76-87. doi: 10.1142/9789814335058_0009.

Abstract

The contribution of collections of rare sequence variations (or 'variants') to phenotypic expression has begun to receive considerable attention within the biomedical research community. However, the best way to capture the effects of rare variants in relevant statistical analysis models is an open question. In this paper we describe the application of a number of statistical methods for testing associations between rare variants in two genes to obesity. We consider the relative merits of the different methods as well as important implementation details, such as the leveraging of genomic annotations and determining p-values.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amidohydrolases / genetics
  • Case-Control Studies
  • Computational Biology
  • Genetic Association Studies / statistics & numerical data*
  • Genetic Variation*
  • Genome-Wide Association Study / statistics & numerical data
  • Humans
  • Monoacylglycerol Lipases / genetics
  • Obesity / genetics
  • Regression Analysis

Substances

  • Monoacylglycerol Lipases
  • Amidohydrolases
  • fatty-acid amide hydrolase