Please use this identifier to cite or link to this item: https://hdl.handle.net/10356/156601
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dc.contributor.authorYu, Liyien_US
dc.date.accessioned2022-04-21T02:05:40Z-
dc.date.available2022-04-21T02:05:40Z-
dc.date.issued2022-
dc.identifier.citationYu, L. (2022). Connecting single nucleotide polymorphisms to genes: disease association at the gene level. Final Year Project (FYP), Nanyang Technological University, Singapore. https://hdl.handle.net/10356/156601en_US
dc.identifier.urihttps://hdl.handle.net/10356/156601-
dc.description.abstractInterpreting Genome-Wide Association Studies (GWAS) at a gene level is an important step towards understanding the molecular processes that lead to disease. In order to incorporate prior biological knowledge such as pathways and protein interactions in the analysis of GWAS data it is necessary to derive one measure of association for each gene. We will compare three different methods to obtain gene-wide test statistics from Single Nucleotide Polymorphism (SNP) based association data: choosing the test statistic from the most significant SNP; the mean test statistics of all SNPs; and the mean of the top quartile of all test statistics. We demonstrate that the gene-wide test statistics can be controlled for the number of SNPs within each gene and show that all three methods perform considerably better than expected by chance at identifying genes with confirmed associations. By applying each method to GWAS data for Crohn’s Disease and Type 1 Diabetes Lehne et al identified new potential disease genes. The aim of this project is to apply this study on summary data available on psychiatric cohorts.en_US
dc.language.isoenen_US
dc.publisherNanyang Technological Universityen_US
dc.subjectEngineering::Computer science and engineering::Computer applications::Life and medical sciencesen_US
dc.titleConnecting single nucleotide polymorphisms to genes: disease association at the gene levelen_US
dc.typeFinal Year Project (FYP)en_US
dc.contributor.supervisorJagath C Rajapakseen_US
dc.contributor.schoolSchool of Computer Science and Engineeringen_US
dc.description.degreeBachelor of Engineering (Computer Science)en_US
dc.contributor.supervisoremailASJagath@ntu.edu.sgen_US
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Appears in Collections:SCSE Student Reports (FYP/IA/PA/PI)
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