• Journal of Internet Computing and Services
• /
• v.18 no.5
• /
• pp.47-53
• /
• 2017

In past few years, high-throughput sequencing, big-data generation, cloud computing, and computational biology are revolutionary. RNA sequencing is emerging as an attractive alternative to DNA microarrays. And the methods for constructing Gene Regulatory Network (GRN) from RNA-Seq are extremely lacking and urgently required. Because GRN has obtained substantial observation from genomics and bioinformatics, an elementary requirement of the GRN has been to maximize distinguishable genes. Despite of RNA sequencing techniques to generate a big amount of data, there are few computational methods to exploit the huge amount of the big data. Therefore, we have suggested a novel gene selection algorithm combining Support Vector Machines and Intensity-dependent normalization, which uses log differential expression ratio in RNAseq. It is an extended variation of support vector machine recursive feature elimination (SVM-RFE) algorithm. This algorithm accomplishes minimum relevancy with subsets of Big-Data, such as NCBI-GEO. The proposed algorithm was compared to the existing one which uses gene expression profiling DNA microarrays. It finds that the proposed algorithm have provided as convenient and quick method than previous because it uses all functions in R package and have more improvement with regard to the classification accuracy based on gene ontology and time consuming in terms of Big-Data. The comparison was performed based on the number of genes selected in RNAseq Big-Data.

• Journal of KIISE
• /
• v.42 no.12
• /
• pp.1584-1589
• /
• 2015

With the advancement of next-generation sequencing (NGS) technologies, various genome browsers have been introduced. Because existing browsers focus on comparison of the genomic data of extant species, however, there is a need for a genome browser for ancestral genomes and their evolution. In this paper, we introduce a genome browser, AGB (Ancestral Genome Browser), that displays ancestral genome data reconstructed from existing species. With AGB, it is possible to trace genomic variations that occurred during evolution in a simple and intuitive way. We explain the capability of AGB in terms of visualizing ancestral genomic information and evolutionary genomic variations. AGB is now available at http://bioinfo.konkuk.ac.kr/genomebrowser/.

• The Korean Journal of Applied Statistics
• /
• v.37 no.2
• /
• pp.157-176
• /
• 2024

Integrative analysis for better understanding of complex biological systems gains more attention. Observing subjects from various perspectives and conducting integrative analysis of those multiple datasets enables a deeper understanding of the subject. In this paper, we compared two methods that simultaneously consider two datasets gathered from the same objects, canonical correlation analysis (CCA) and co-inertia analysis (CIA). Since CCA cannot handle the case when the data exhibit high-dimensionality, two strategies were considered instead: Utilization of a ridge constant (CCA-ridge) and substitution of covariance matrices of each data to identity matrix and then applying penalized singular value decomposition (CCA-PMD). To illustrate CIA and CCA, both extensions of CCA and CIA were applied to NCI60 cell line data. It is shown that both methods yield biologically meaningful and significant results by identifying important genes that enhance our comprehension of the data. Their results shows some dissimilarities arisen from the different criteria used to measure the relationship between two sets of data in each method. Additionally, CIA exhibits variations dependent on the weight matrices employed.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.17 no.3
• /
• pp.96-102
• /
• 2017

Glycogen storage disease type IX (GSD IX) is caused by deficiency of phosphorylase kinase which plays a role in breakdown of glycogen. Mutations in PHKA2 are the most common cause of GSD IX (GSD IXa). Clinical manifestations of GSD IXa include hepatomegaly, elevation of liver enzyme, growth retardation, fasting hypoglycemia, and fasting ketosis. However, the symptoms overlap with those of other types of GSDs. Here, we report Korean familial cases with GSD IXa whose diagnosis was confirmed by targeted exome sequencing. A 4-year old male patient was presented with hepatomegaly and persistently elevated liver enzyme. Liver biopsy revealed swollen hepatocyte filled with glycogen storage, suggesting GSDs. Targeted exome sequencing was performed for the differential molecular diagnosis of various types of GSDs. A hemizygous mutation in PHKA2 were detected by targeted exome sequencing and confirmed by Sanger sequencing: c.3632C>T (p.Thr121Met), which was previously reported. The familial genetic analysis revealed that his mother was heterozygous carrier of c.3632C>T mutation and his 28-month old brother had hemizygous mutation. His brother also had hepatomegaly and elevated liver enzyme. The hypoglycemia was prevented by frequent meals with complex carbohydrate, as well as cornstarch supplements. Their growth and development is in normal range. We suggest that targeted exome sequencing could be a useful diagnostic tool for the genetically heterogeneous and clinically indistinguishable GSDs. A precise molecular diagnosis of GSD can provide appropriate therapy and genetic counseling for the family.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.18 no.2
• /
• pp.62-67
• /
• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

• The Transactions of the Korea Information Processing Society
• /
• v.6 no.11
• /
• pp.3124-3130
• /
• 1999

A duplex system enhances reliability by tolerating faults through spatial redundancy. Faults can be detected by duplicating identical tasks in pairs of modules. However, this kind of systems cannot even detect the fault if it occurs coincidently due to either malfunctions of common component such as power supply and clock or due to such environmental disruption as EMI. In the paper, we propose a method to reduce those effects of coincident faults in the duplex controller computer. Specifically, a duplex system tolerates coincident faults by using a sophistication sequencing of scheduling technique with certain timing redundancy. In particular when all tasks should be completed in the sense of real-time, the suggested scheduling method works properly to minimize the probability of faulty tasks due to coincident fault without missing the timing constraints.

• Proceedings of the Korean Information Science Society Conference
• /
• 2004.10b
• /
• pp.103-105
• /
• 2004

최근 바이오 인포매틱스 분야의 발전에 따라 방대한 양의 유전체 데이터에 대한 연구가 진행되고 있으며, 이러한 데이터를 효율적으로 다루기 위해 다양한 형태의 파일과 데이터베이스들이 사용되고 있다. 하지만 표준화의 미비로 인하여 데이터의 관리 및 변환에 어려움이 많다. 따라서 이 논문에서는 시퀀싱을 통해 생성된 유전체 및 단백질 서열 데이터의 통합 저장 관리를 위해 서열 정보의 편집, 저장 및 검색과 서열 파일 포맷 변환을 수행하는 서열 정보관리 시스템의 구현을 목적으로 한다. 이러한 요구사항을 만족시키기 위해 바이오 인포메틱스 데이터를 다루기 위한 표준으로 BSML(Bioinformatic Sequence Markup Language)을 채택하고 이질적 플랫파일들은 DTD를 기반으로 BSML 스키마로 통합 및 저장한다. 그리고 객체 관계 데이터베이스 특성을 적용하여 XML 문서를 보다 쉽게 저장 관리하고 범위 또는 구조적 질의에 효율적인 XPath 질의 처리를 위한 시스템을 개발하였다.

• Proceedings of the Korean Information Science Society Conference
• /
• 2004.10b
• /
• pp.37-39
• /
• 2004

현재 생물학 연구실에서 시퀀싱 실험을 통해 생성되거나 또는 공개용 생물 데이터베이스로부터 획득된 유전체 및 단백질 정보는 각각 이질적인 데이터형식을 사용하고 있다. 이 때문에, 생물정보를 분석하여 상호간의 정보를 효율적으로 사용하기 위해서는 공통된 형식의 데이터 표준화작업이 필수적이다. 그리고 이러한 이질적 데이터 형식에 대한 표준화 연구의 미비로 인하여 플랫 파일간의 정보공유에 어려움을 겪고 있다. 따라서, 이 논문에서는 다양한 유전체 및 단백질 정보를 관리.공유하기 위해 이질적인 포맷간의 맵핑 과정을 통하여 BSML(Bioinformatic Sequence Markup Language) 형태로 변환하고, 이를 객체관계형 데이터베이스(Object Relational DataBase)에 저장하는 시스템을 개발하였다. 그리고, 개발된 시스템은 생물정보 데이터의 표준화를 위해 개발된 XML(Extend Markup Language) 기반의 BSML을 이용함으로써 효율적으로 생물학 데이터들 간의 정보를 공유할 수 있으며, 개인 생물학 데이터베이스 구축이나 다양한 생물학적 데이터를 통합 관리하는 시스템에서 유용하게 쓰일 수 있다.

• Proceedings of the IEEK Conference
• /
• 2003.07d
• /
• pp.1407-1410
• /
• 2003

멀티미디어에 대한 관심 증가로 미디어 파일중의 하나인 SMF의 사용자층이 넓어지고 있다. 기존의 시퀀싱 소프트웨어의 양자화 기능은 음표 하나만을 기준을 했기 때문에 건반 혹은 다른 미디 컨트롤러를 통해 실시간으로 입력받은 SW를 양자화 한 후 또 다시 수작업으로 보정을 해 주어야 했다. 본 논문에서는 이와 같은 번거로움을 줄이고, 연주자가 최초에 의도한 악보에 근접하기 위한 SMF의 양자화 알고리듬에 관해 제안하였다.

• Electronics and Telecommunications Trends
• /
• v.26 no.5
• /
• pp.55-65
• /
• 2011

요즘 신산업으로 떠오르고 있는 개인 유전체 분석이나 차세대 시퀀싱 기술과 같은 고성능 컴퓨팅 응용들은 data-intensive한 작업들을 요구하며, 이러한 응용을 지원하기 위한 고성능 파일 시스템 기술에 대한 연구들이 다수 진행 중이다. 그러나 그 결과물들은 업체별로 보유한 고유 기술로서, 상호 호환성 등의 문제로 인해 표준화의 필요성이 제기되어 왔다. 현재 파일 시스템과 관련하여 거의 모든 IT 업체에서 사용하고 있는 실질적인 표준은 NFS(Network File System)이다. IETF(Internet Engineering Task Force)에서는 이러한 요구사항들을 반영하여 2010년에 NFSv4.1 표준을 공표하였고, 특히 I/O 성능을 향상시키기 위한 pNFS(parallel NFS)는 NFSv4.1의 핵심 기능으로서 다수업체들과 연구기관들에서 많은 관심을 받고 있다. 본 고에서는 pNFS 표준화 및 연구개발 동향과 관련된 이슈들에 대해 기술하고자 한다.