• 대한화장품학회지
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• 제27권2호
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• pp.15-30
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• 2001

최근 인간 유전체 사업(Human Genome Project)의 완성과 DNA Microarray, Proteomics, Bioinformatics 등의 초고속, 대용량 처리 바이오기술(High Throughput Biotechnology)의 발전과 함께 생명과학 분야의 연구는 획기적인 변화의 시기를 맞이하게 되었다. 이미 의약품 분야는 이러한 기술을 활용한 연구가 보편화 되어있고 선진 외국 회사들의 화장품연구 또한 이를 활용한 연구가 본격화 되고 있다. 화장품개발에 있어서도 이러한 기술들의 활용이 불가피하게 되었다. 여기서는 이러한 새로운 바이오기술들에 관해 간단히 알아보고 향후 이러한 기술들의 효과적인 화장품개발 관련연구 활용범위와 활용방법에 대하여 알아본다.

• Genomics & Informatics
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• 제17권4호
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• pp.40.1-40.9
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• 2019

While studies aimed at detecting and analyzing indels or single nucleotide polymorphisms within human genomic sequences have been actively conducted, studies on detecting long insertions/deletions are not easy to orchestrate. For the last 10 years, the availability of long read data of human genomes from PacBio or Nanopore platforms has increased, which makes it easier to detect long insertions/deletions. However, because long read data have a critical disadvantage due to their relatively high cost, many next generation sequencing data are produced mainly by short read sequencing machines. Here, we constructed programs to detect so-called unmapped regions (UMRs, where no reads are mapped on the reference genome), scanned 40 Korean genomes to select UMR long deletion candidates, and compared the candidates with the long deletion break points within the genomes available from the 1000 Genomes Project (1KGP). An average of about 36,000 UMRs were found in the 40 Korean genomes tested, 284 UMRs were common across the 40 genomes, and a total of 37,943 UMRs were found. Compared with the 74,045 break points provided by the 1KGP, 30,698 UMRs overlapped. As the number of compared samples increased from 1 to 40, the number of UMRs that overlapped with the break points also increased. This eventually reached a peak of 80.9% of the total UMRs found in this study. As the total number of overlapped UMRs could probably grow to encompass 74,045 break points with the inclusion of more Korean genomes, this approach could be practically useful for studies on long deletions utilizing short read data.

• 유전체소식지
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• 제5권4호
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• pp.9-16
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• 2005

Bioinformatics is a rapidly emerging field of biomedical research. A flood of large-scale genomic expression data transforms the challenges m biomedical research into ones in bioinformatics. Clinical informatics has long developed technologies to imp개ve biomedical research by integrating experimental and clinical information systems. Biomedical informatics, powered by high throughput techniques, genomic-scale databases and advanced clinical information system, is likely to transform our biomedical understanding forever much the same way that biochemistry did to biology a generation ago. The emergence of healthcare and biomedical informatics revolutionizing both bioinformatics and clinical informatics will eventually change the current practice of medicine, including diagnostics, therapeutics and prognostics.

• Genomics & Informatics
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• 제1권1호
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• pp.20-24
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• 2003

The analysis of DNA microarry data is one of the most important things for functional genomics research. The matrix representation of microarray data and its successive 'optimal' incisional hyperplanes is a useful platform for developing optimization algorithms to determine the optimal partitioning of pairwise proximity matrix representing completely connected and weighted graph. We developed Deterministic Annealing (DA) approach to determine the successive optimal binary partitioning. DA algorithm demonstrated good performance with the ability to find the 'globally optimal' binary partitions. In addition, the objects that have not been clustered at small non­zero temperature, are considered to be very sensitive to even small randomness, and can be used to estimate the reliability of the clustering.

• 한국멀티미디어학회:학술대회논문집
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• 한국멀티미디어학회 2000년도 추계학술발표논문집
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• pp.571-574
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• 2000

오늘날 단백질 정보 분석은 HGP(Human Genome Project)이후 Post-genome 시대를 맞이하면서 매우 중요한 분야로 인식되고 있다. 이 단백질 정보를 이용하는 응용은 Discovery of Protein Structure/Function Relationships, Evolutionary Relationships, 3D Modeling 등 많은 분야에서 활용되어진다. 여러 가지 분야들 중에서 특히 단백질 구조 분석을 위한 많은 다양한 소프트웨어들이 출현되고 있다. 하지만 복잡하게 얽혀 있는 단백질들을 검증하기 위해서 Mass Spectrometry에서 발생되는 Peptide Masses의 정보들을 이용할 수 있다. 이에 본 논문에서는 Mass Spectrometry에서 생성된 Peptide Mass Map을 이용하여 기존의 단백질 Database에 있는 단백질들과 비교하는 자동화 단백질 검증 시스템 설계 및 구현에 관한 연구내용을 담고 있다. 이 시스템은 3-계층 중심으로 개발이 이루어지며 이 기종 시스템과의 원활한 통신 다중 계층의 환경에 있는 각 객체들간에 통신을 위해서 RMI 기반의 미들 웨어를 활용하기로 한다.

• Molecules and Cells
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• 제22권2호
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• pp.127-132
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• 2006

In the post genome project era, it is well established that the human genome contains a smaller number of genes than expected. The complexity found in higher organisms can be explained if proteins are multifunctional. Indeed, recent studies are continuing to reveal proteins that are capable of a broad repertoire of functions. A good paradigm for multifunctionality can be found in the amino-acyl tRNA synthetases (aaRSs), an ancient conserved family of proteins. This unique family, which is comprised of 20 different enzymes, is well known for its participation in protein synthesis. Several studies have described numerous examples of these "housekeeping" proteins taking part in extensive critical cellular activities. In this review, we focus on a member of that family, lysyl-tRNA synthetase (LysRS), which has been shown to have a dual functionality. In addition to its contribution to the translation process, LysRS also takes part in the regulation of MITF and USF2 target genes. This phenomenon was first described in mast cells.

• Journal of the Korean Data and Information Science Society
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• 제25권5호
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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.

• BMB Reports
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• 제37권1호
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• pp.35-44
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• 2004

Recently produced information on post-translational modifications makes it possible to interpret their biological regulation with new insights. Various protein modifications finely tune the cellular functions of each protein. Understanding the relationship between post-translational modifications and functional changes ("post-translatomics") is another enormous project, not unlike the human genome project. Proteomics, combined with separation technology and mass spectrometry, makes it possible to dissect and characterize the individual parts of post-translational modifications and provide a systemic analysis. Systemic analysis of post-translational modifications in various signaling pathways has been applied to illustrate the kinetics of modifications. Availability will advance new technologies that improve sensitivity and peptide coverage. The progress of "post-translatomics", novel analytical technologies that are rapidly emerging, offer a great potential for determining the details of the modification sites.

• BMB Reports
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• 제37권3호
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• pp.269-274
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• 2004

DNA polymerases without the 3' exonuclease function ($exo^-$ pol) have been widely used in sequencing and SNP genotyping. As a major player that expedited the coming of the postgenomic era, $exo^-$ polymerases worked remarkably well in the Human Genome Sequencing Project. However, it has become a challenge for this class of polymerases to efficiently screen the large number of SNPs that are found in the human genome. For more than three decades it has been recognized that polymerase fidelity varied according to the presence of proofreading activity that is mediated by its internal 3' exonuclease. Polymerases with proofreading function are famous for their high fidelity in DNA replication both in vivo and in vitro, but this well-known class of polymerases has been almost completely neglected in genetic analysis in the postgenomic era. We speculate that $exo^+$ polymerases may exhibit higher nucleotide identification ability when compared to $exo^-$ polymerases for an in vitro genetic analysis. With the application of $exo^+$ polymerases in SNP assays, a novel mechanism for the maintenance of DNA replication, the on/off switch, was discovered. Two new SNP assays have been developed to carry out genome-wide genotyping, taking advantage of the enzymatic properties of $exo^+$ polymerases. Furthermore, the on/off switch mechanism embodies a powerful nucleotide identification ability, which can be used to discriminate the bases that are upstream of the 3' terminus, and thus defines a new concept in de novo sequencing technology. Application of $exo^+$ polymerases to genetic analysis, and especially SNP assays, will greatly accelerate the pace to personalized medicine.

• Molecules and Cells
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• 제40권2호
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• pp.151-161
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• 2017

Proper synaptic function in neural circuits requires precise pairings between correct pre- and post-synaptic partners. Errors in this process may underlie development of neuropsychiatric disorders, such as autism spectrum disorder (ASD). Development of ASD can be influenced by genetic factors, including copy number variations (CNVs). In this study, we focused on a CNV occurring at the 16p11.2 locus in the human genome and investigated potential defects in synaptic connectivity caused by reduced activities of genes located in this region at Drosophila larval neuromuscular junctions, a well-established model synapse with stereotypic synaptic structures. A mutation of rolled, a Drosophila homolog of human mitogen-activated protein kinase 3 (MAPK3) at the 16p11.2 locus, caused ectopic innervation of axonal branches and their abnormal defasciculation. The specificity of these phenotypes was confirmed by expression of wild-type rolled in the mutant background. Albeit to a lesser extent, we also observed ectopic innervation patterns in mutants defective in Cdk2, Gq, and Gp93, all of which were expected to interact with Rolled MAPK3. A further genetic analysis in double heterozygous combinations revealed a synergistic interaction between rolled and Gp93. In addition, results from RT-qPCR analyses indicated consistently reduced rolled mRNA levels in Cdk2, Gq, and Gp93 mutants. Taken together, these data suggest a central role of MAPK3 in regulating the precise targeting of presynaptic axons to proper postsynaptic targets, a critical step that may be altered significantly in ASD.