Generalizing Disease Associations to Non-Studied Populations
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This study determines whether risk allele frequencies (RAFs) for common diseases can be generalized in genome wide association surveys (GWAS) that are done in different populations other than the original study population. To test this, the study compares RAFs gathered from the NHRI-EBI GWAS Catalog and 1000 Genomes Project by study population and checks if there is bias towards the study population. If the trend is present, the study looks to answer the question of whether or not this is due to an inherent bias from the study population, or a pre-ascertained bias in the genotyping single nucleotide polymorphism (SNP) chip array. To test bias in the technology, the study compares allele frequencies for disease SNPs and non-disease SNPs on Illumina1M and Affymetrix 6.0 genotyping arrays. If the bias still persists, then there is an inherent bias due to the study population alone. At this point, the study will examine the role of other contributing factors to differences in disease allele frequencies across populations. These include: type of disease, number of participants in the GWAS, whether alleles have a large effect, etc. This study potentially contributes the overall field of population genetics and personalized medicine. Essentially, the goal is to ensure that the information attained can be used to create models that could correct potential bias in GWAS studies.