Topic Introduction

Assessing Significance in Genetic Association Studies

Adapted from Genetic Variation (eds. Weiner et al.). CSHL Press, Cold Spring Harbor, NY, USA, 2007.

INTRODUCTION

A critical step in every genetic association study is the estimation of statistical significance. It is on the basis of these estimates, frequently in the form of the traditional P-value, that most studies attempt to draw a qualitative conclusion regarding the association, or lack of association, of the tested genetic variants. This article introduces basic concepts and fundamental considerations relevant to designing appropriate significance tests and discusses what these tests can and cannot tell us about genetic association.