ARUNABHA MAJUMDAR
Articles written in Journal of Genetics
Volume 101 All articles Published: 25 January 2022 Article ID 0014 RESEARCH ARTICLE
Competing analytical strategies of combining associated SNPs for estimating genetic risks
ARUNABHA MAJUMDAR SAURABH GHOSH
In genomewide association study (GWAS) of a complex phenotype, a large number of variants, many with small effect sizes, are found to contribute to the variability of the phenotype. Subsequent to the identification of such variants in a GWAS, it is of interest to estimate the risk jointly conferred by the variants. We propose three different strategies of combining the risk SNPs to calculate an allele dosage score. Using simulations, we evaluate the different measures of allele dosage score with respect to the risk prediction accuracy of a binary trait and the proportion of variance explained for a quantitative trait. For a binary trait, an allele dosage score defined based on log odds ratio performs marginally better than the other two measures. For a quantitative trait, the measure based on the standardized slope coefficient in linear regression of the trait on single-nucleotide polymorphism (SNP) genotypes performs better than the measures using the weights proportional to log
Volume 102, 2023
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