title: Characteristics of replicated single-nucleotide polymorphism genotypes from COGA: Affymetrix and Center for Inherited Disease Research.
abstract: Genetic Analysis Workshop 14 provided re-genotyped single-nucleotide polymorphism (SNP) data. Specifically, both Center for Inherited Disease Research (CIDR) and Affymetrix genotyped the same 11,560 SNPs from the Affymetrix GeneChip Mapping 10K Array marker set on the same 184 individuals from the Collaborative Study on the Genetics of Alcoholism database. While the inconsistency rate between CIDR and Affymetrix (two different genotypes for the same subject) was low (0.2%), the non-replication rate (two different genotypes for the same subject or one identified genotype and one missing genotype) was substantial (9.5%). The missing data could be from no-call regions, which is inconsistent with recent recommendations about the use of no-call regions in association tests. In addition, no-call regions would suggest that the actual inconsistency rate is higher than reported. A high inconsistency rate has significant impact on power in related hypothesis tests. In addition, the data are consistent with assumptions made in a recently proposed likelihood ratio test of association for re-genotyped data.
authors.affiliation: Department of Applied Mathematics and Statistics, Stony Brook University, Stony Brook, New York 11794, USA. tintle@hope.edu
authors.forename: Nathan L
authors.initials: NL
authors.lastname: Tintle
authors.forename: Kwangmi
authors.initials: K
authors.lastname: Ahn
authors.forename: Nancy Role
authors.initials: NR
authors.lastname: Mendell
authors.forename: Derek
authors.initials: D
authors.lastname: Gordon
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Finch
mesh_terms: D000437:Alcoholism / Q000235:genetics*; D003299:Cooperative Behavior; D030342:Genetic Diseases, Inborn; D036281:Genetic Research; D005838:Genotype; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015203:Reproducibility of Results