SYSTEMATIC ANALYSIS OF NATURAL VARIATION IN THE SINGAPORE INTEGRATIVE OMICS PROJECT: A FOCUS ON GENOMIC AND TRANSCRIPTOMIC VARIATION

Abstract

Natural variation in human can be observed through multi-aspects, ranging from upstream genetics, to transcriptomics to proteomics. The Singapore Integrative Omics Study (iOmics) simultaneously surveyed the genetics (HumanOmni2.5 + HumanExome) and transcriptomics (Affymetrix HuGene1.0) of ~360 individuals from three major ethnics in Singapore. We observed that the Illumina HumanExome does not provide sufficient coverage for interrogating exonic regions in Singapore population. While the transcriptomics and gene co-expression network profile across the three groups are similar, the marginal differential expression suggests differences in the immune-related pathway. Integrating the high genetic variation SNPs and the gene expression profile identified 22 genes regulated by high FST SNPs. This shows the biological impact of genetic variation towards differential expression and ultimately towards observed phenotype. Overall, this study provides valuable resources not only for the advancement of medical research in Singapore, but also for the algorithm development of data integration.