• Genes and Genomics
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• v.40 no.12
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• pp.1279-1285
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• 2018

Interdigitating dendritic cell sarcoma (IDCS) is an aggressive neoplasm and is an extremely rare disease, with a challenging diagnosis. Etiology of IDCS is also unknown and most studies with only case reports. In our case, immunohistochemistry showed that the tumor cells were positive for S100, CD45, and CD68, but negative for CD1a and CD21. This study aimed to investigate the causative factors of IDCS by sequencing the protein-coding regions of IDCS. We performed whole-exome sequencing with genomic DNA from blood and sarcoma tissue of the IDCS patient using the Illumina Hiseq 2500 platform. After that, we conducted Sanger sequencing for validation of sarcoma-specific variants and gene ontology analysis using DAVID bioinformatics resources. Through comparing sequencing data of sarcoma with normal blood, we obtained 15 nonsynonymous single nucleotide polymorphisms (SNPs) as sarcoma-specific variants. Although the 15 SNPs were not validated by Sanger sequencing due to tumor heterogeneity and low sensitivity of Sanger sequencing, we examined the function of the genes in which each SNP is located. Based on previous studies and gene ontology database, we found that POLQ encoding DNA polymerase theta enzyme and FNIP1 encoding tumor suppressor folliculin-interacting protein might have contributed to the IDCS. Our study provides potential causative genetic factors of IDCS and plays a role in advancing the understanding of IDCS pathogenesis.

• Proceedings of the Korean Society of Precision Engineering Conference
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• 2005.06a
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• pp.65-70
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• 2005

This paper introduces an approach to multi-layered product knowledge model for collaborative engineering environment. The participants in collaborative engineering want to share and reason product knowledge through internet without any heterogeneity and ambiguity. However the previous knowledge models are limited in providing those aspects. In this paper, the collaborative engineering domain is analyzed and then the product knowledge is organized into four levels such as product context model, product specific model, product design model and product manufacturing model. The four levels are represented by first-order logic in layered fashion. The concepts and the instances of a formal ontology are used for recursive representation of the four levels. The instances of the concepts of an upper level like product context model are considered as the concepts of an adjacent lower level like product specific model, and this mechanism is applied to the other levels. These logic representations are integrated with the schema and the instances of a relational database. OWL representation of the four levels is defined through the integration of the logic representation and OWL primitives. The four product knowledge models have their major representation according to the characteristics of each model. This approach enables engineer to share product knowledge through internet without any ambiguity and utilize it as basis for additional reasoning.

• Proceedings of the Korea Information Processing Society Conference
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• 2010.11a
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• pp.136-139
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• 2010

우리나라 주소는 우편번호를 기준으로 한 주소체계, 법정동을 기준으로 한 주소체계, 행정동을 기준으로 한 주소체계, KT 에서 관리하는 KT 주소체계 등 주소관리가 통합되어 있지 않고, 각 기관, 기업별로 주소 관리를 별도로 하고 있다. 이에 따라 기관과 기업들간의 상이한 주소체계 관리문제로 인해 서로간의 주소체계의 의미가 일치하지 않는 문제가 발생하여 다양한 문제가 유발되고 있다. 본 논문에서는 이러한 문제점들을 해결하기 위해 주소 명칭에 대한 보다 자동화된 맵핑이 가능하도록 KT 주소, 우편번호주소, 행정동/법정동코드를 대상으로 온톨로지를 사용한 모델을 제안하였다. 제안된 모델은 주소정보간의 의미관계성을 유지하여 이기종 주소체계의 의미 불일치를 해결할 수 있으며, 보다 자동화된 데이터관리와 장기적인 비용절감이 가능하다.

• Journal of Information Management
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• v.37 no.2
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• pp.1-20
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• 2006

It has lately been recognized that the sharing and exchanging of the research results information is the critical factor to improve the research productivity. So many institutions are planning or developing the information systems which provide the research information services for researcher. But it has very difficulty in integrating the research resources information due to the dispersion and heterogeneity in data sources, and semantic and structural difference in describing data. We propose the semantic web based methodology and conceptual framework for raising the interoperability of metadata about research results information, which will support the integration of the distributed research data for information services in the end. We first introduce the ontology which is developed based on Standard Metadata of Research Results Information published by STISC. Then to show the applicability in real-world environment, we express the metadata of research information in RDF/RDFS according to ontology. Finally we proposed the conceptual architecture of research information service system which shows the main components, the functional requirements, and the principal and design direction at implementing the system.

• The KIPS Transactions:PartD
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• v.18D no.2
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• pp.89-100
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• 2011

The CNV (Copy Number Variation) which is one of the genetic structural variations in human genome is closely related with the function of gene. In particular, the genome-wide association studies for genetic diseased persons have been researched. However, there have been few studies which infer the genetic function of CNV with normal human. In this paper, we propose the analysis method to reveal the functional relationship between common CNV and genes without considering their genomic loci. To achieve that, we propose the data integration method for heterogeneity biological data and novel measurement which can calculate the correlation between common CNV and genes. To verify the significance of proposed method, we has experimented several verification tests with GO database. The result showed that the novel measurement had enough significance compared with random test and the proposed method could systematically produce the candidates of genetic function which have strong correlation with common CNV.

• Korean Journal of Cognitive Science
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• v.21 no.1
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• pp.95-126
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• 2010

This study proposes a bottom-up and inductive manual mapping methodology for integrating two heterogenous fine-grained ontologies which were built by a top-down and deductive methodology, namely the Sejong semantic classes (SJSC) and the upper nodes in KorLexNoun 1.5 (KLN), for HLP applications. It also discusses various problematics in the mapping processes of two language resources caused by their heterogeneity and proposes the solutions. The mapping methodology of heterogeneous fine-grained ontologies uses terminal nodes of SJSC and Least Upper Bounds (LUB) of KLN as basic mapping units. Mapping procedures are as follows: first, the mapping candidate groups are decided by the lexfollocorrelation between the synsets of KLN and the noun senses of Sejong Noun Dfotionaeci(SJND) which are classified according to SJSC. Secondly, the meanings of the candidate groups are precisely disambiguated by linguistic information provided by the two ontologies, i.e. the hierarchicllostructures, the definitions, and the exae les. Thirdly, the level of LUB is determined by applying the appropriate predicates and definitions of SJSC to the upper-lower and sister nodes of the candidate LUB. Fourthly, the mapping possibility ic inthe terminal node of SJSC is judged by che aring hierarchicllorelations of the two ontologies. Finally, the ituorrect synsets of KLN and terminologiollocandidate groups are excluded in the mapping. This study positively uses various language information described in each ontology for establishing the mapping criteria, and it is indeed the advantage of the fine-grained manual mapping. The result using the proposed methodology shows that 6,487 LUBs are mapped with 474 terminal and non-terminal nodes of SJSC, excluding the multiple mapped nodes, and that 88,255 nodes of KLN are mapped including all lower-level nodes of the mapped LUBs. The total mapping coverage is 97.91% of KLN synsets. This result can be applied in many elaborate syntactic and semantic analyses for Korean language processing.