• BMB Reports
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• v.47 no.6
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• pp.348-353
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• 2014

The speed of sound (SOS) value is an indicator of bone mineral density (BMD). Previous genome-wide association (GWA) studies have identified a number of genes, whose variations may affect BMD levels. However, their biological implications have been elusive. We re-analyzed the GWA study dataset for the SOS values in skeletal sites of 4,659 Korean women, using a gene-set analysis software, GSA-SNP. We identified 10 common representative GO terms, and 17 candidate genes between these two traits (PGS < 0.05). Implication of these GO terms and genes in the bone mechanism is well supported by the literature survey. Interestingly, the significance levels of some member genes were inversely related, in several gene-sets that were shared between two skeletal sites. This implies that biological process, rather than SNP or gene, is the substantial unit of genetic association for SOS in bone. In conclusion, our findings may provide new insights into the biological mechanisms for BMD.

• Proceedings of the Korean Society for Bioinformatics Conference
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• 2005.09a
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• pp.431-436
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• 2005

Living cells are sustained not by individual activities but rather by coordinated summative efforts of different biological functional modules. While recent research works have focused largely on finding individual functional modules, this paper attempts to explore the connections or relationships between different cellular functions through cross-function domain interaction maps. Exploring such a domain interaction map can help understand the underlying inter-function communication mechanisms. To construct a cross-function domain interaction map from existing genome-wide protein-protein interaction datasets, we propose a two-step procedure. First, we infer conserved domain-domain interactions from genome-wide protein-protein interactions of yeast, worm and fly. We then build a cross-function domain interaction map that shows the connections of different functions through various conserved domain interactions. The domain interaction maps reveal that conserved domain-domain interactions can be found in most detected cross-functional relationships and a f9w domains play pivotal roles in these relationships. Another important discovery in the paper is that conserved domains correspond to highly connected protein hubs that connect different functional modules together.

• Journal of the Korean Data and Information Science Society
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• v.25 no.5
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• pp.1127-1135
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• 2014

Genome-wide association studies (GWAS) are designed to discover genetic variants such as single nucleotide polymorphisms (SNPs) that are associated with human complex traits. Although there is an increasing interest in the application of GWAS methodologies to population-based cohorts, many published GWAS have adopted a case-control design, which raise an issue related to a sampling bias of both case and control samples. Because of unequal selection probabilities between cases and controls, the samples are not representative of the population that they are purported to represent. Therefore, non-random sampling in case-control study can potentially lead to inconsistent and biased estimates of SNP-trait associations. In this paper, we proposed inverse-probability of sampling weights based on disease prevalence to eliminate a case-control sampling bias in estimation and testing for association between SNPs and quantitative traits. We apply the proposed method to a data from the Korea Association Resource project and show that the standard estimators applied to the weighted data yield unbiased estimates.

• Genomics & Informatics
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• v.9 no.1
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• pp.1-4
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• 2011

Genome-wide association (GWA) studies are the method of choice for discovering loci associated with common diseases. More than a thousand GWA studies have reported successful identification of statistically significant association signals in human genomes for a variety of complex diseases. In this review, I discuss some of the issues related to the future of GWA studies and their biomedical applications.

• The Plant Pathology Journal
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• v.37 no.5
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• pp.503-503
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• 2021

• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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• pp.208-208
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• 2022

• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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• pp.240-240
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• 2022

• Proceedings of the Korean Society of Crop Science Conference
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• 2020.11a
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• pp.123-123
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• 2020

• Proceedings of the Korean Society of Crop Science Conference
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• 2023.04a
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• pp.20-20
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• 2023

• Proceedings of the Korean Society of Crop Science Conference
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• 2021.10a
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• pp.197-197
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• 2021