A tutorial on statistical methods for population association studies.

DJ Balding

Nature reviews. Genetics, Vol. 7, pp. 781-791, 2006


Abstract

Although genetic association studies have been with us for many years, even for the simplest analyses there is little consensus on the most appropriate statistical procedures. Here I give an overview of statistical approaches to population association studies, including preliminary analyses (Hardy-Weinberg equilibrium testing, inference of phase and missing data, and SNP tagging), and single-SNP and multipoint tests for association. My goal is to outline the key methods with a brief discussion of problems (population structure and multiple testing), avenues for solutions and some ongoing developments.

Keywords

GenotypeHumansPolymorphism, Single NucleotideGenetics, PopulationHaplotypesGenetics, MedicalStatistics as TopicGenome, Human