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Technical reproducibility of genotyping SNP arrays used in genome-wide association studies.


ABSTRACT: During the last several years, high-density genotyping SNP arrays have facilitated genome-wide association studies (GWAS) that successfully identified common genetic variants associated with a variety of phenotypes. However, each of the identified genetic variants only explains a very small fraction of the underlying genetic contribution to the studied phenotypic trait. Moreover, discordance observed in results between independent GWAS indicates the potential for Type I and II errors. High reliability of genotyping technology is needed to have confidence in using SNP data and interpreting GWAS results. Therefore, reproducibility of two widely genotyping technology platforms from Affymetrix and Illumina was assessed by analyzing four technical replicates from each of the six individuals in

SUBMITTER: Hong H 

PROVIDER: S-EPMC3436888 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature