• 제목/요약/키워드: Association mapping

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"아시아인 건강을 위한 한국인 게놈" : 한국인 유전체 프로젝트의 상업화 전략 ("The Korean Genome for Asian Health": A Commercialization Strategy of the Korean Genome Projects)

  • 현재환
    • 과학기술학연구
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    • 제19권2호
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    • pp.117-167
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    • 2019
  • 인간 유전체 프로젝트의 초안 발표 이후 여러 한국인 유전체 프로젝트들이 추진되었다. 그 결과 등장한 한국인 유전체를 둘러싼 흥미로운 담론 중 하나는 "한국인 유전체" 서열 분석을 통해 "아시아인 맞춤의학"을 구현할 수 있다는 주장이다. 본 논문은 이를 한국 유전체 학자들이 자국민에 대한 유전체 자료를 상업화하려는 노력 가운데 발전시킨 전략으로 인지하고, 이 "아시아인 건강을 위한 한국인 게놈" 전략이 출현하게 된 배경을 역사적으로 검토한다. 이 글은 한국 유전체 프로젝트들의 전략이 탈식민 국가들에서 빈번하게 발견되는 "유전체 주권"(genome sovereignty) 정책이 2000년대 초반 이후 한국에서 주요 정책 의제로 부상한 아시아 지역주의와 결합하여 등장한 산물이라고 주장한다. 이를 통해 이 연구는 그간 범아시아 SNP 컨소시엄(Pan-Asian Single Nucleotide Polymorphism Consortium)을 중심으로 논의된 유전체학과 아시아인의 구성에 관한 과학기술학 연구가 국소적인 아시아인 관념과 아시아 지역주의를 가진 싱가포르의 경험을 지나치게 일반화해왔음을 지적한다. 이와 함께 한국 유전체학 거버넌스에서 과학기술학자들이 맡을 수 있는 역할에 대해서도 고민해 볼 기회를 제공할 것이다.

포도의 교배집단을 이용한 과립 형질에 대한 유전체 전장 연관 분석 (Genome-wide Association Study of Berry-related Traits in Grape Seedlings)

  • 유향화;허윤영;임동준;김수진;박서준;이동훈;최경옥
    • 한국자원식물학회:학술대회논문집
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    • 한국자원식물학회 2019년도 추계학술대회
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    • pp.19-19
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    • 2019
  • 유전체 전장 연관분석 (GWAS)은 단일염기다형성(SNP)의 유전자형과 표현형 간의 통계적인 연관성을 분석함으로써 품종 선발용 SNP Marker 개발에 응용되고 있다. 본 연구에서는 Tano Red와 Ruby seedless 교배실생 278 계통을 대상으로 여러 과실 특성에 따른 관련 SNP를 동정함으로써 육종 선발에 필요한 DNA marker 개발에 필요한 기초 유전 자료를 얻고자 하였다. 한 계통 당 5~10개의 포도알을 선택하여 과립중, 과육탄성, 과피탄성, 과육경도, 과피경도, 과립당 종자갯수, 과립당 종자무게 및 인장강도를 측정하였다. 각 개체는 Genotyping by sequencing (GBS) 방법으로 Sequencing하여 Reference genome (Vitis vinifera PN40024 12X v2.)과 mapping 하였다. MAF (Minor allele frequency) >5%, Missing Data <30% 의 조건을 가진 SNPs 만 1차 선발하여 TASSEL과 GAPIT 프로그램으로 GWAS 분석을 하였다. Manhattan plot 결과 과립중 형질에서는 33개, 과립당 종자무게 25개와 인장강도에서는 20개의 통계학적으로 유의한 SNPs 가 선발되었고, 특이적으로 이들 모두 18번 염색체에서 발견되었다. 그러나 나머지 형질에서는 유의한 차이를 보이는 SNPs를 선발하지 못하였다. 과실의 인장강도는 수확 후 저장성과 유통과정에 영향을 미치기 때문에 Marker 개발을 통한 품종선별이 중요하다. 향후 이러한 특성과 본 연구를 통해 동정된 SNPs 의 상관관계를 구체적으로 연구하여 Marker 개발에 활용하고자 한다.

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AirQ+와 BenMAP을 이용한 초미세먼지 개선의 건강편익 산정 (Assessing the Health Benefits of PM2.5 Reduction Using AirQ+ and BenMAP)

  • 간순영;배현주
    • 한국환경보건학회지
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    • 제49권1호
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    • pp.30-36
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    • 2023
  • Background: Among various pollutants, fine particle (PM2.5, defined as particle less than 2.5 nm in aerodynamic diameter) shows the most consistent association with adverse health effects. There is scientific evidence documenting a variety of adverse health outcomes due to exposure to PM2.5. Objectives: This study aims to assess the health benefits of that would be achieved by meeting the World Health Organization's air quality guidelines for PM2.5 using AirQ+ and BenMAP. Methods: We estimated PM2.5 related health benefits in Korea from implementing the World Health Organization's air quality guidelines (annual average 5 ㎍/m3 and 10 ㎍/m3) and Korea's National Ambient Air Quality Standard (annual average 15 ㎍/m3). We used World Health Organization's AirQ+ and U.S. Environmental Protection Agency's Environmental Benefits Mapping and Analysis Program. Results: The annual number of avoided PM2.5 related premature deaths exceeding WHO guideline levels was assessed using both AirQ+ and BenMAP. We estimated that the health benefits of attaining the World Health Organization's air quality guidelines for PM2.5 (annual average 5 ㎍/m3) would suggest an annual reduction of 26,128 (95% confidence interval [CI]: 17,363~34,024) and 26,853 (95% CI: 18,527~34,944) premature deaths. Conclusions: Our study provided useful information to policy makers and confirms that the reduction of PM2.5 concentration would result in significant health benefits in Korea.

3차원 GIS의 현실감 부여 빌딩 모델링 및 시각화에 관한 연구 (Photorealistic Building Modelling and Visualization in 3D GIS)

  • 송용학;손홍규;윤공현
    • 대한토목학회논문집
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    • 제26권2D호
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    • pp.311-316
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    • 2006
  • 지형공간정보체계가 공간분석 및 의사결정을 위한 뛰어난 도구로서 다양한 분야에서 활용되고 있지만 세밀한 도시환경을 3차원으로 묘사할 수 있는 기능은 아직 제한적이다. 본 연구에서는 3차원 모델링 및 시각화의 최근 기술을 GIS의 3차원 구현능력을 향상시키기 위하여 기존의 GIS 상용 프로그램과 통합하였다. 현실과 매우 근사한 3차원 모형을 하기 위하여 입체항공사진으로부터 빌딩 모형을 제작하였으며 또한 건물의 지붕과 벽의 텍스쳐는 각각 정사항공영상 및 지상사진을 이용하여 생성하였다. 본 연구는 ArcGIS, ArcObjects 및 Visual Basic을 이용하여 구현되었으며 3차원 기하학적 모형과 자료 구조, 텍스쳐 생성 및 이들을 병합한 3차원 도심 모형의 생성 기법을 제시하였다. 그 결과 미국 퍼듀대학 캠퍼스를 현실감있는 3차원 시각화를 구현하였다.

The Topology of Extimacy in Language Poetry: Torus, Borromean Rings, and Klein Bottle

  • Kim, Youngmin
    • 영어영문학
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    • 제56권6호
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    • pp.1295-1310
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    • 2010
  • In her "After Language Poetry: Innovation and Its Theoretical Discontents" in Contemporary Poetics (2007), Marjorie Perloff spotted Steve McCaffery's and Lyn Hejinian's points of reference and opacity/transparency in poetic language, and theorizes in her perspicacious insights that poetic language is not a window, to be seen through, a transparent glass pointing to something outside it, but a system of signs with its own semiological interconnectedness. Providing a critique and contextualizing Perloff's argument, the purpose of this paper is to introduce a topological model for poetry, language, and theory and further to elaborate the relation between the theory and the practice of language poetry in terms of "the revolution of language." Jacques Lacan's poetics of knowledge and of the topology of the mind, in particular, that of "extimacy," can articulate the way how language poetry problematizes the opposition between inside and outside in the substance of language itself. In fact, as signifiers always refer not to things, but to other signifiers, signifiers becomes unconscious, and can say more than they actually says. The original signifiers become unconscious through the process of repression which makes a structure of multiple and polyphonic signifying chains. Language poets use this polyphonic language of the Other at Freudian "Another Scene" and Lacan's "Other." When the reader participates the constructive meanings, the locus of the language writing transforms itself into that of the Other which becomes the open field of language. The language poet can even manage to put himself in the between-the-two, a strange place, the place of the dream and of the Unheimlichkeit (uncanny), and suture between "the outer skin of the interior" and "the inner skin of the exterior" of the impossible real of definite meaning. The objective goal of the evacuation of meaning is all the same the first aspect suggested by the aims of the experimentalism by the language poetry. The open linguistic fields of the language poetry, then, will be supplemented by The Freudian "unconscious" processes of dreams, free associations, slips of tongue, and symptoms which are composed of this polyphonic language. These fields can be properly excavated by the methods and topological mapping of the poetics of extimacy and of the klein bottle.

State of the art on the physical mapping of the Y-chromosome in the Bovidae and comparison with other species - A review

  • Rossetti, Cristina;Genualdo, Viviana;Incarnato, Domenico;Mottola, Filomena;Perucatti, Angela;Pauciullo, Alfredo
    • Animal Bioscience
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    • 제35권9호
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    • pp.1289-1302
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    • 2022
  • The next generation sequencing has significantly contributed to clarify the genome structure of many species of zootechnical interest. However, to date, some portions of the genome, especially those linked to a heterogametic nature such as the Y chromosome, are difficult to assemble and many gaps are still present. It is well known that the fluorescence in situ hybridization (FISH) is an excellent tool for identifying genes unequivocably mapped on chromosomes. Therefore, FISH can contribute to the localization of unplaced genome sequences, as well as to correct assembly errors generated by comparative bioinformatics. To this end, it is necessary to have starting points; therefore, in this study, we reviewed the physically mapped genes on the Y chromosome of cattle, buffalo, sheep, goats, pigs, horses and alpacas. A total of 208 loci were currently mapped by FISH. 89 were located in the male-specific region of the Y chromosome (MSY) and 119 were identified in the pseudoautosomal region (PAR). The loci reported in MSY and PAR were respectively: 18 and 25 in Bos taurus, 5 and 7 in Bubalus bubalis, 5 and 24 in Ovis aries, 5 and 19 in Capra hircus, 10 and 16 in Sus scrofa, 46 and 18 in Equus caballus. While in Vicugna pacos only 10 loci are reported in the PAR region. The correct knowledge and assembly of all genome sequences, including those of genes mapped on the Y chromosome, will help to elucidate their biological processes, as well as to discover and exploit potentially epistasis effects useful for selection breeding programs.

패싱, 경계와 차이의 서사 -제임스 W. 존슨과 넬라 라선 (Boundaries and Differences in the Narrative of Passing: James W. Johnson and Nella Larsen)

  • 강희
    • 영어영문학
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    • 제53권2호
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    • pp.307-333
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    • 2007
  • When W. E. B. Du Bois says that "the problem of the twentieth century is the problem of the color line," such a statement clearly recognizes the significance of the issue of racial identity, a cultural phenomenon called 'passing.' Both Johnson in The Autobiography of an Ex-Colored Man and Larsen in Passing confront this issue. Both novels, using the metaphor of passing, not only trace the racial anxiety and race politics of the time but also expose the unstable landscape of the established social and cultural boundaries of racial identity. Mapping out multiple meanings and various dimensions of passing, this paper argues how Johnson's and Larsen's narratives display the ambivalence of color line while they at the same time complicate, problematize, and destabilize the mainstream racial boundaries and differences. It furthers to delineate how the two writers, with difference, deal with the problem of passing, the significance of racial identity, and black middle class values along with its intraracial differences. Rather than draw a clear definition of and a definitive closure on passing narrative, this paper focuses on its complexities and undecidability, challenging every dimension of its established significations. It also explores the complex dynamic between passing act and individual identity, for passing here is not just a racially signified term but extends its significance to the other factors of identity, such as class and even sexuality. Johnson and Larsen open up a site for a newly emergent, modern racial identity for black middle class in the twentieth century American urban spaces. Both writers, illuminating the subversive and slippery nature of language in their passing narrative, clearly herald new, different forms of Afro-American writings and themes for the different century they face.

Consumer Associative Network Analysis on Device and Service Convergence

  • Han, Sangman;Lee, Janghyuk;Park, Sun-Young;Jo, Woonghyeon
    • Asia Marketing Journal
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    • 제15권3호
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    • pp.1-14
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    • 2013
  • Our research brings managerial insights for developing new digital convergence of devices and services. To explain the phenomenon of device and service convergence, we combine two different approaches from separate research fields: a perceptual mapping technique generally used for segmentation in marketing and associative network analysis mobilized to understanding network structure of core and peripheral as well as the information mediating role of nodes in network science. By combining these two approaches, we provide an in-depth analysis of the associations among devices and services by assessing the centrality of device and service nodes in an associative network. This is done by examining the connections between these services and devices as well as investigating the role of mediation in the combined device-service associative network. Our results based on bi-partite network analysis of survey responses from 250 Internet Protocol (IP) television viewers show which device and which service will play the major role in future device and service convergence as well as which characteristics and functionalities have to be incorporated into future convergence. Among the devices, the mobile handset with the betweenness centrality of 0.26 appears to be the device that would lead future device convergence. Among the services, wireless broadband with the betweenness centrality of 0.276 appears to be the service on which future service convergence needs to be developed. This result is quite unexpected, since wireless broadband has a lower penetration rate than other services, such as fixed broadband and cable TV. In addition, we indicate the possibility of converging devices, such as personal digital assistant (PDA) and mobile handset, and services, such as IPTV and mobile Internet, into wireless broadband services in the future.

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Development and Characterization of Novel Rapeseed (Brassica napus L.) Mutant Lines through Mutation Breeding

  • Baul Yang;Sang Hoon Kim;Joon-Woo Ahn;Chang-Hyu Bae;Jaihyunk Ryu
    • 한국자원식물학회:학술대회논문집
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    • 한국자원식물학회 2022년도 추계학술대회
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    • pp.23-23
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    • 2022
  • Rapeseed (Brassica napus L.) is one of the most valuable oilseed crop in the world. It is widely used in various industries, such as food, animal feed, energy and chemical industries. In order to improve the industrial requirements for rapeseed, useful agronomic characteristics (higher yields and disease resistance etc.) and modified oil traits (fatty acid composition and fat content) are important in rapeseed. However, Korea has limiting genetic resources of novel traits in rapeseed. In this research, novel rapeseed mutant genotypes by mutation breeding was developed. The mutant lines were generated by the treatment of the seeds of the original cultivar 'Tamra' with 700 Gy of gamma-ray (60Co). Mutants showing varied in flowering time, crude fat content, seed yield and fatty acid content that exhibited stable inheritance of the mutated characteristics from M5 to M7 generations were selected. We investigated genetic variation using SNPs identified from GBS analysis in rapeseed mutant lines derived from the gamma-ray, and interactions between the major agronomic and the oil traits. Significantly associated SNP loci were explored along with candidate genes using SNPs obtained by GBS analysis. As a results of association mapping, a total of 322 SNPs were significantly associated with agronomic traits (155 SNPs) and oil traits (167 SNPs). A total of 70 genes were annotated from agronomic characteristics SNPs; among them 7 genes significantly enriched in developmental process, and a total of 70 genes were annotated from crude fat content and fatty acid compositions SNPs; among them, 11genes were significantly enriched in biosynthetic process. These results could be used for the selection of rapeseed cultivar with enhanced qualities and potential economic benefits.

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Genetic factors influencing milk and fat yields in tropically adapted dairy cattle: insights from quantitative trait loci analysis and gene associations

  • Thawee Laodim;Skorn Koonawootrittriron;Mauricio A. Elzo;Thanathip Suwanasopee;Danai Jattawa;Mattaneeya Sarakul
    • Animal Bioscience
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    • 제37권4호
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    • pp.576-590
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    • 2024
  • Objective: The objective of this study was to identify genes associated with 305-day milk yield (MY) and fat yield (FY) that also influence the adaptability of the Thai multibreed dairy cattle population to tropical conditions. Methods: A total of 75,776 imputed and actual single nucleotide polymorphisms (SNPs) from 2,661 animals were used to identify genomic regions associated with MY and FY using the single-step genomic best linear unbiased predictions. Fixed effects included herd-year-season, breed regression, heterosis regression and calving age regression effects. Random effects were animal additive genetic and residual. Individual SNPs with a p-value smaller than 0.05 were selected for gene mapping, function analysis, and quantitative trait loci (QTL) annotation analysis. Results: A substantial number of QTLs associated with MY (9,334) and FY (8,977) were identified by integrating SNP genotypes and QTL annotations. Notably, we discovered 17 annotated QTLs within the health and exterior QTL classes, corresponding to nine unique genes. Among these genes, Rho GTPase activating protein 15 (ARHGAP15) and catenin alpha 2 (CTNNA2) have previously been linked to physiological traits associated with tropical adaptation in various cattle breeds. Interestingly, these two genes also showed signs of positive selection, indicating their potential role in conferring tolerance to trypanosomiasis, a prevalent tropical disease. Conclusion: Our findings provide valuable insights into the genetic basis of MY and FY in the Thai multibreed dairy cattle population, shedding light on the underlying mechanisms of tropical adaptation. The identified genes represent promising targets for future breeding strategies aimed at improving milk and fat production while ensuring resilience to tropical challenges. This study significantly contributes to our understanding of the genetic factors influencing milk production and adaptability in dairy cattle, facilitating the development of sustainable genetic selection strategies and breeding programs in tropical environments.