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Title: | WHOLE EXOME SEQUENCING APPROACH TOWARDS THE DISCOVERY OF GENETIC VARIANTS INVOLVED IN SUDDEN UNEXPLAINED DEATH SYNDROME (SUDS) | Authors: | ELSA HANIFFAH MEJIA MOHAMED | Keywords: | WES, SUDS, arrhythmia, SCD, polygenic disease | Issue Date: | 6-Aug-2018 | Citation: | ELSA HANIFFAH MEJIA MOHAMED (2018-08-06). WHOLE EXOME SEQUENCING APPROACH TOWARDS THE DISCOVERY OF GENETIC VARIANTS INVOLVED IN SUDDEN UNEXPLAINED DEATH SYNDROME (SUDS). ScholarBank@NUS Repository. | Abstract: | Sudden unexplained death syndrome (SUDS) is a complex disorder with a variety of genetic and non-genetic causes. Molecular autopsy diagnoses only one third of all unexplained SUDS. We hypothesize that some SUDS cases may be explained by multiple-gene effect between common variants with small effects or lower frequency variants with moderate to large effect. Genetic causes were explored using whole exome sequencing analysis. Cases were of young, Singaporean male Chinese cohort with clearly defined phenotypes (n=22) and controls with matching ethnicity, sex and age. Variants were filtered according to arrhythmia and cardiomyopathy causing gene list, and also according to East Asian minor allele frequency (MAF). All SNP variants in different groups and group combinations were statistically tested using sequence kernel association test (SKAT-O). Common variants of moderate impact as well as low frequency variants with moderate impact were most significantly associated with SUDS. | URI: | http://scholarbank.nus.edu.sg/handle/10635/151234 |
Appears in Collections: | Master's Theses (Open) |
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