• 제목/요약/키워드: Complex Traits

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Pharmacogenomics in Drug Discovery and Development

  • Ahn, Chul
    • Genomics & Informatics
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    • 제5권2호
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    • pp.41-45
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    • 2007
  • Pharmacogenomics is the study that examines how genetic variations affect the ways in which people respond to drugs. The ways people respond to drugs are complex traits that are influenced by many different genes. Pharmacogenomics intends to develop rational means of optimizing drug therapy, with respect to the patients' genotype, to maximize efficacy with minimal adverse drug reactions. Pharmacogenomics has the potential to revolutionize the practice of medicine, and promises to usher in an area of personalized medicine, in which drugs and drug combinations are optimized for each individual's unique genetic makeup. Indeed, pharmacogenomics is exploited as an essential step for target discovery and drug development in the pharmaceutical industry. The goal of the personalized medicine is to get the right dose of the right drug to the right patient at the right time. In this article, we will review the use of pharmacogenomics in drug discovery and development.

Statistical Bias and Inflated Variance in the Genehunter Nonparametric Linkage Test Statistic

  • Song, Hae-Hiang;Choi, Eun-Kyeong
    • Communications for Statistical Applications and Methods
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    • 제16권2호
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    • pp.373-381
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    • 2009
  • Evidence of linkage is expressed as a decreasing trend of the squared trait difference of two siblings with increasing identical by descent scores. In contrast to successes in the application of a parametric approach of Haseman-Elston regression, notably low powers are demonstrated in the nonparametric linkage analysis methods for complex traits and diseases with sib-pairs data. We report that the Genehunter nonparametric linkage statistic is biased and furthermore the variance formula that they used is an inflated one, and this is one reason for a low performance. Thus, we propose bias-corrected nonparametric linkage statistics. Simulation studies comparing our proposed nonparametric test statistics versus the existing test statistics suggest that the bias-corrected new nonparametric test statistics are more powerful and attains efficiencies close to that of Haseman-Elston regression.

우울장애의 신경생물학적 최신 지견 : 세로토닌 전달체에 대한 영상 유전학적 연구를 중심으로 (Current Understanding in Neurobiology of Depressive Disorders : Imaging Genetic Studies on Serotonin Transporter)

  • 함병주
    • 생물정신의학
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    • 제18권4호
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    • pp.176-180
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    • 2011
  • Depressive disorders have strong genetic components. However, conventional linkage and association studies have not yielded definitive results. These might be due to the absence of objective diagnostic tests, the complex nature of human behavior or the incomplete penetrance of psychiatric traits. Imaging genetics explores the influences of genetic variation on the brain function or structure. This technique could provide a more sensitive assessment than traditional behavioral measures in psychiatric studies. Imaging genetics is a relatively new field of psychiatric researches, and may improve our understanding on neurobiology of psychiatric disorders. In this review, current understanding in neurobiology of depressive disorders, especially imaging genetic studies on serotonin transporter will be discussed.

Assessment of Mathematical Creativity in Mathematical Modeling

  • Jang, Hong-Shick
    • 한국수학교육학회지시리즈D:수학교육연구
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    • 제15권2호
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    • pp.181-196
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    • 2011
  • In mathematical modeling tasks, where students are exposed to model-eliciting for real and open problems, students are supposed to formulate and use a variety of mathematical skills and tools at hand to achieve feasible and meaningful solutions using appropriate problem solving strategies. In contrast to problem solving activities in conventional math classes, math modeling tasks call for varieties of mathematical ability including mathematical creativity. Mathematical creativity encompasses complex and compound traits. Many researchers suggest the exhaustive list of criterions of mathematical creativity. With regard to the research considering the possibility of enhancing creativity via math modeling instruction, a quantitative scheme to scale and calibrate the creativity was investigated and the assessment of math modeling activity was suggested for practical purposes.

원가산정을 위한 표준분류체계 활용한 지식체계 개발 (Knowledge Structure for Cost Estimates Based on Standardized Cost Database)

  • 임혜경;강남희;최재현
    • 한국건축시공학회:학술대회논문집
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    • 한국건축시공학회 2016년도 춘계 학술논문 발표대회
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    • pp.235-236
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    • 2016
  • The importance of construction management has been increasing due to the fact that complex construction projects blend several different industries depending on the traits of the construction. This research was conducted to search for a method to enhance efficiency in cost management of construction project and meet the need for reusability of accumulated construction information. The process of detailed estimation and methodology for using standard unit price information has been developed to strengthen the interoperability in cost information by utilizing a standard classification system. The concept of ontology is proposed as a method of connecting construction information based on a standard breakdown structure to increasing the connectivity of the cost information in the construction project. Therefore, construction information knowledge framework is developed in order to improve the efficiency of the detailed estimation work process.

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녹화중 유채자엽의 색소체 발달에 미치는 Benzyladenine의 효과 (Effect of Benzyladenine on Plastid Development of Rape Cotyledons during Greening)

  • 진창덕
    • Journal of Plant Biology
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    • 제29권4호
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    • pp.255-262
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    • 1986
  • Developmental changes of chlorophyll-protein (CP)-complex and plastid membrane proteins during the greening of rape (Brassica napus L.) cotyledons were examined in order to investigate the effect of benzymladenine (BA) on plastid development. The formation of CP-complexes was slightly promoted by BA treatment in early greening stage, at 24 h and 48 h after illumination. However, BA inhibited the development of CP-complexes at 72 h after illumination. On the profiles of plastid membrane proteins with greening time, it was found that the 24 kd protein was increased and the 56 kd protein was decreased in both water control and BA-treated cotyledons. However, the above two traits were retarded under BA treatment, respectively. From the obtained result, plastid development of rape cotyledon during greening was partially affected by interaction between light and BA dependent on its physiological age.

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한국재래닭의 품종 다양성 연구를 위한 유전자 마커 개발에 대한 고찰: 총설 (DNA Markers for the Genetic Diversity in Korean Native Chicken Breeds: A Review)

  • 서동원;이준헌
    • 한국가금학회지
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    • 제43권2호
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    • pp.63-76
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    • 2016
  • The genetic diversity of Korean native chicken is important for conservation of native chicken breeds and developing economically valuable traits in Korea. In this review, various types of genetic markers using Korean native chickens were investigated, which are mtDNA variations, microsatellite markers, markers in Major Histocompatibility Complex (MHC), and single nucleotide polymorphisms (SNPs). These genetic markers are suitable for breed discrimination and diversity studies because of their high polymorphism status. Thus, the purpose of this study was to summarize the genetic markers developed in the Korean native chickens and diversity studies using these breeds. Ultimately, these markers can be used for the future studies for understanding of genetic characteristics.

Functional annotation of lung cancer-associated genetic variants by cell type-specific epigenome and long-range chromatin interactome

  • Lee, Andrew J.;Jung, Inkyung
    • Genomics & Informatics
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    • 제19권1호
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    • pp.3.1-3.12
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    • 2021
  • Functional interpretation of noncoding genetic variants associated with complex human diseases and traits remains a challenge. In an effort to enhance our understanding of common germline variants associated with lung cancer, we categorize regulatory elements based on eight major cell types of human lung tissue. Our results show that 21.68% of lung cancer-associated risk variants are linked to noncoding regulatory elements, nearly half of which are cell type-specific. Integrative analysis of high-resolution long-range chromatin interactome maps and single-cell RNA-sequencing data of lung tumors uncovers number of putative target genes of these variants and functionally relevant cell types, which display a potential biological link to cancer susceptibility. The present study greatly expands the scope of functional annotation of lung cancer-associated genetic risk factors and dictates probable cell types involved in lung carcinogenesis.

Understanding postal delivery areas in the Republic of Korea using multiple unsupervised learning approaches

  • Han, Keejun;Yu, Yeongwoong;Na, Dong-gil;Jung, Hoon;Heo, Younggyo;Jeong, Hyeoncheol;Yun, Sunguk;Kim, Jungeun
    • ETRI Journal
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    • 제44권2호
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    • pp.232-243
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    • 2022
  • Changes in household composition and the residential environment have had a considerable impact on the features of postal delivery regions in recent years, resulting in a large increase in the overall workload of domestic postal delivery services. In this paper, we provide complex analysis results for postal delivery areas using various unsupervised learning approaches. First, we extract highly influential features using several feature-engineering methods. Then, using quantitative and qualitative cluster analyses, we find the distinctive traits and semantics of postal delivery zones. Unsupervised learning approaches are useful for successfully grouping postal service zones, according to our findings. Furthermore, by comparing a postal delivery region to other areas in the same group, workload balancing was achieved.

Digenic or oligogenic mutations in presumed monogenic disorders: A review

  • Afif Ben-Mahmoud;Vijay Gupta;Cheol-Hee Kim;Lawrence C Layman;Hyung-Goo Kim
    • Journal of Genetic Medicine
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    • 제20권1호
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    • pp.15-24
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    • 2023
  • Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. This review article aims to explore the emerging concept of digenic or oligogenic inheritance in seemingly monogenic disorders. We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. We present relevant studies and highlight the importance of adopting a broader genetic approach in understanding the complex genetic architecture of these conditions.