Reporting and evaluating genetic association studies.
Genetic association studies have become an important part of our scientific landscape. This commentary discusses some basic scientific issues which should be considered when reporting and evaluating such studies including SNP Discovery, Genotyping and Haplotype Analysis; Population Size, Matching of Cases and Controls, and Population Stratification; Phenotype Definition and Multiple Related Phenotypes; Multiple Testing; Replication; Genome-wide Association Studies (GWAS); and the Role of Functional Studies. All of these elements are important in evaluating such studies and should be carefully considered when these studies are conceived and carried out.
Peters
Stephen P
SP
Wake Forest University Health Sciences, Center for Human Genomics, Winston-Salem, NC, USA. sppeters@wfubmc.edu
D016022:Case-Control Studies; D056726:Genetic Association Studies / Q000379:methods*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000379:methods; D006239:Haplotypes; D006801:Humans; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D012107:Research Design; D018401:Sample Size