NDLI: Evaluating variations of genotype calling: a potential source of spurious associations in genome-wide association studies

Content Provider	Springer Nature Link
Author	Hong, Huixiao Su, Zhenqiang Ge, Weigong Shi, Leming Perkins, Roger Fang, Hong Mendrick, Donna Tong, Weida
Copyright Year	2010
Abstract	Genome-wide association studies (GWAS) examine the entire human genome with the goal of identifying genetic variants (usually single nucleotide polymorphisms (SNPs)) that are associated with phenotypic traits such as disease status and drug response. The discordance of significantly associated SNPs for the same disease identified from different GWAS indicates that false associations exist in such results. In addition to the possible sources of spurious associations that have been investigated and discussed intensively, such as sample size and population stratification, an accurate and reproducible genotype calling algorithm is required for concordant GWAS results from different studies. However, variations of genotype calling of an algorithm and their effects on significantly associated SNPs identified in downstream association analyses have not been systematically investigated. In this paper, the variations of genotype calling using the Bayesian Robust Linear Model with Mahalanobis distance classifier (BRLMM) algorithm and the resulting influence on the lists of significantly associated SNPs were evaluated using the raw data of 270 HapMap samples analysed with the Affymetrix Human Mapping 500K Array Set (Affy500K) by changing algorithmic parameters. Modified were the Dynamic Model (DM) call confidence threshold (threshold) and the number of randomly selected SNPs (size). Comparative analysis of the calling results and the corresponding lists of significantly associated SNPs identified through association analysis revealed that algorithmic parameters used in BRLMM affected the genotype calls and the significantly associated SNPs. Both the threshold and the size affected the called genotypes and the lists of significantly associated SNPs in association analysis. The effect of the threshold was much larger than the effect of the size. Moreover, the heterozygous calls had lower consistency compared to the homozygous calls.
Starting Page	55
Ending Page	64
Page Count	10
File Format	PDF
ISSN	00221333
Journal	Journal of Genetics
Volume Number	89
Issue Number	1
e-ISSN	09737731
Language	English
Publisher	Springer-Verlag
Publisher Date	2010-04-01
Publisher Institution	Indian Academy of Sciences
Publisher Place	India
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	genotype calling genome-wide association studies missing call rate calling algorithm spurious association Evolutionary Biology Animal Genetics and Genomics Plant Genetics & Genomics Microbial Genetics and Genomics Life Sciences
Content Type	Text
Resource Type	Article
Subject	Genetics

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