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Diplotyper: diplotype-based association analysis

Title
Diplotyper: diplotype-based association analysis
Author
고인송
Keywords
HIGH-DENSITY-LIPOPROTEIN; GENOME-WIDE ASSOCIATION; HEPATIC LIPASE; CARDIOVASCULAR-DISEASE; HAPLOTYPE BLOCKS; FOLLOW-UP; CHOLESTEROL; PLASMA; RISK; LOCI
Issue Date
2013-05
Publisher
Second Annual Translational Bioinformatics Conference
Citation
BMC Medical Genomics. 2013, 6(2), P.1-8.
Abstract
Background: It was previously reported that an association analysis based on haplotype clusters increased powerover single-locus tests, and that another association test based on diplotype trend regression analysisoutperformed other, more common association approaches. We suggest a novel algorithm to combine haplotypecluster- and diplotype-based analyses.Methods: Diplotyper combines a novel algorithm designed to cluster haplotypes of interest from a given set ofhaplotypes with two existing tools: Haploview, for analyses of linkage disequilibrium blocks and haplotypes, andPLINK, to generate all possible diplotypes from given genotypes of samples and calculate linear or logisticregression. In addition, procedures for generating all possible diplotypes from the haplotype clusters andtransforming these diplotypes into PLINK formats were implemented.Results: Diplotyper is a fully automated tool for performing association analysis based on diplotypes in apopulation. Diplotyper was tested through association analysis of hepatic lipase (LIPC) gene polymorphisms ordiplotypes and levels of high-density lipoprotein (HDL) cholesterol.Conclusions: Diplotyper is useful for identifying more precise and distinct signals over single-locus tests.
URI
https://bmcmedgenomics.biomedcentral.com/articles/10.1186/1755-8794-6-S2-S5
ISSN
1755-8794
DOI
10.1186/1755-8794-6-S2-S5
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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