• Title/Summary/Keyword: Frame of interpretation

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Importance of family segregation in the American College of Medical Genetics and Genomics and Association of Molecular Pathology guidelines: Case of a Korean family with autosomal dominant polycystic disease

  • Kwon, Won Kyung;Kim, Suhee;Jang, Ja-Hyun;Kim, Jong-Won
    • Journal of Genetic Medicine
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    • v.17 no.1
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    • pp.51-54
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    • 2020
  • Since the American College of Medical Genetics and Genomics and Association of Molecular Pathology published their guidelines in 2015, most interpretations of genetic tests have followed them. However, all variants have only limited evidence along 28 interpretation standards, especially de novo variants. When de novo variants, which are classified as variants of uncertain significance (VUS) due to lack of evidence, are detected, segregation in the affected family could provide an important key to clarifying the variants. Autosomal dominant polycystic kidney disease is the most common inherited kidney disorder with pathogenic variants in the PKD1 or PKD2 genes. We detected a novel in-frame deletion variant in the PKD1 gene, c.7575_7577del (p.(Cys2526del)), which was interpreted as a VUS. We analyzed this variant in a Korean family to decide for segregation. Here, we report the variant as a likely pathogenic variant based on the evidence of segregation in three affected relatives and two unaffected members.

대순사상의 인간이해

  • Yun, Jae-Geun
    • Journal of the Daesoon Academy of Sciences
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    • v.16
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    • pp.105-130
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    • 2003
  • Religious Though includes desirable attitudes towards existence of human beings and the value of life. These can be considered as the viewpoint of human being in religions. Also, the recognition frame of human being should be focused on the desirable human formation. That is, human being should not be viewed by already established frames, but human beings should be regarded as the ones that by themselves can build their true figures through developing human nature with the self-awareness of existence and the effort for establishing an ideal character. Without the correct concept of a 'human model', it is impossible to shed light on what the process of the human formation is and how the human formation willbe established. A 'human model', that is the goal of such a formation, might show different aspects if considering the historical situations including the circumstance of individuals and society. However, no matter how different 'human model', which are dependent upon phenomenal problems, are considered, it might most likely fails to grasp a fundamental issue without a 'human model' based on the essential problem of human being. In this regards, it can be considered that a 'Perfect person' with including both fundamental ways and relations of existence is the one enabling to establish a true 'human model' and, I try to show its striking example, 'Injon' that is an ideal 'human model' of Daesoon Thought. Therefore, this paper will show the interpretation and understanding of human beings in Daesoon Thought, and examine what their meanings are.

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Interpretation of Physical Properties of Marine Sediments Using Multi­Sensor Core Logger (MSCL): Comparison with Discrete Samples

  • Kim, Gil-Young;Kim, Dae-Choul
    • Journal of the korean society of oceanography
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    • v.38 no.4
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    • pp.166-172
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    • 2003
  • Multi­Sensor Core Logger (MSCL) is a useful system for logging the physical properties (compressional wave velocity, wet bulk density, fractional porosity, magnetic susceptibility and/or natural gamma radiation) of marine sediments through scanning of whole cores in a nondestructive fashion. But MSCL has a number of problems that can lead to spurious results depending on the various factors such as core slumping, gas expansion, mechanical stretching, and the thickness variation of core liner and sediment. For the verification of MSCL data, compressional wave velocity, wet bulk density, and porosity were measured on discrete samples by Hamilton Frame and Gravimetric method, respectively. Acoustic impedance was also calculated. Physical property data (velocity, wet bulk density, and impedance) logged by MSCL were slightly larger than those of discrete sample, and porosity is reverse. Average difference between MSCL and discrete sample at both sites is relatively small such as 22­24 m/s in velocity, $0.02­-0.08\;g/\textrm{cm}^3$ in wet bulk density, and 2.5­2.7% in porosity. The values also show systematic variation with sediment depth. A variety of factors are probably responsible for the differences including instrument error, various measurement method, sediment disturbance, and accuracy of calibration. Therefore, MSCL can be effectively used to collect physical property data with high resolution and quality, if the calibration is accurately completed.

A Study on the Phenomenological Characteristics of the St. Ignatius Chapel by Steven Holl (성 이냐시오 채플에 나타난 현상학적 건축특성에 관한 연구)

  • Kim, Jun-Sung;Chung, Tae-Yong
    • Korean Institute of Interior Design Journal
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    • v.21 no.4
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    • pp.12-20
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    • 2012
  • The aim of this study is to review phenomenological characteristics in Steven Holl's architecture through his design of St. Ignatius Chapel at Seattle University. To obtain this purpose, an analytical frame based on Holl's theory of phenomenological architecture is suggested to have a systematic study for St. Ignatius chapel. This chapel can be a good example of phenomenological architecture in that it is based on the concept of 'A Gathering of Different Lights' related to phenomenology and considered perception including multi sensory (as well as vision) as primary factors from site and program interpretation to spatial configuration. Unprecedented exterior of St. Ignatius chapel reflected on characteristics and function of rooms to magnify user's spatial experiences through inducing natural light and spatial effect. Holl used various openings and screen for natural light with colors to invoke religious inspiration. He also try to give spatial depth and multi foci for experiencing space through various ceiling forms. These phenomenological features originated in client's strong will as well as appropriateness of the function of facility's religious experiences through building to the purpose of phenomenological architecture.

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Linear viscoelastic behavior of acrylonitrile-butadiene-styrene(ABS) polymers in the melt: Interpretation of data with a linear viscoelastic model of matrix/core-shell modifier polymer blends

  • Park, Joong-Hwan;Ryu, Jong-Hoon;Kim, Sang-Yong
    • Korea-Australia Rheology Journal
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    • v.12 no.2
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    • pp.135-141
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    • 2000
  • The linear viscoelastic behavior of acrylonitrile-butadiene-styrene (ABS) polymers with different rubber content has been investigated in the frame of a linear viscoelastic model, which takes into account the inter-connectivity of the dispersed rubber particles. The model developed in our previous work has been shown to properly predict the low frequency plateau for the storage modulus, which is generally observed in polymer blends containing core-shell-type impact modifiers. In the present study, further experiments have been carried out on ABS polymers with different rubber content to verify the validity of our linear viscoelastic model. It has been found that our model describes quite properly the rheological behavior of ABS polymers with different rubber content, especially at low frequencies. The experimental data confirm that our model describes the rheological properties of rubber-modified thermoplastic polymers with strong adhesion at the particle/matrix interface more accurately than the Palierne model.

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A Study on the Service Provider's Duty to Provide Services in Conformity with the Contract under the DCFR (DCFR상 서비스제공자의 계약에 적합한 서비스제공의무에 관한 연구)

  • Lee, Byung-Moon
    • THE INTERNATIONAL COMMERCE & LAW REVIEW
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    • v.50
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    • pp.27-59
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    • 2011
  • This article attempts to describe and analyze the rules on the service provider's duty to provide his service in conformity with the contract under the Draft Common Frame of Reference (here-in-after DCFR), which are applied to construction, storage, design and factual information contracts. It categorizes such rules in accordance with the requirements of conformity with the contract, the time when the service provided must be in conformity with the contract, and the exemptions of the service provider's duty. On the basis of such categorization, it examines the rules on the service provider's duty in each type of service contract under the DCFR. By doing so, it seeks to figure out how the members of EU compromised on the various issues of the service provider's duty under the DCFR which is regarded as the first uniformed legislation in the area of the service contract. This may provide some guidance to the legislators of domestic law for their amendment or interpretation of their laws. In addition to them, this article also seeks to point out problems in terms of their interpretations and gaps in their rules to cover various aspects of non-conformity and put forward some solutions for such problems and gaps.

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On the Application and Optimization of M-ary Transmission Techniques to Optical CDMA LANs (Optical CDMA 근거리망을 위한 M-진 전송기술에 대한 연구)

  • 윤용철;최진우;김영록
    • The Journal of Korean Institute of Communications and Information Sciences
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    • v.29 no.8C
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    • pp.1086-1103
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    • 2004
  • Most research efforts on the OCDMA technology assume single-bit-per-symbol transmission techniques such as on-off keying. However, achieving high spectral efficiency with such transmission techniques is likely to be a challenging task due to the "unipolar" nature of optical signals. In this paper, an M-ary transmission technique using more than two equally-weighted codes is proposed for OCDMA local area networks, and ie BER performance and spectral efficiency are analyzed. Poison frame arrival and randomly generated codes are assumed for the BER analysis, and the probability of incorrect symbol detection is analytically derived. From the approximation, it is found that there exists an optimal code weight that minimizes the BER, and its physical interpretation is drawn in an intuitive and simple statement. Under the assumption of this optimized code weight and sufficiently large code dimension, it is also shown that the spectral efficiency of OCDMA networks can be significantly improved by increasing the number (M) of symbols used. Since the cost of OCDMA transceivers is expected to increase with the code dimension, we finally provide a guideline to determine the optimal number of symbols for a given code dimension and traffic load.

A Study on the expressional method of koreanity in modern interior architecture and design - based on domestic periodical publications since 1995 - (현대 실내 건축 디자인의 한국성 구현방법에 관한 연구 - 1995년 이후 국내 정기 간행물을 중심으로 -)

  • 김국선;오옥재;이은민;이연숙
    • Proceedings of the Korean Institute of Interior Design Conference
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    • 2003.05a
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    • pp.98-103
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    • 2003
  • Globalization and multi-culturalizm have put light on the importance of cultural identity. To find or establish cultural identity designers have made their effort in their practice. Understanding possible expressional method for cultural identity in this context koreanity, can be a basis to promote such activities. The propose of this study is to investigate expressional method of koreanity in interior design cases appeared which were introduced in major domestic periodical publications since 1995. 43 cases were analyzed by using the analysis frame of 4 expressional method , such as an indicative imitation method, a partial invoked method, a partial transformation method and a conceptual reception method. As result 47% of total cases were used the partial transformation method. 16% by the indicative imitation method, 7% by the partial invoked method and 30% by the conceptual reception method. This result indicated designers have had more active attitude in expressing koreanity with interpretation of traditional concept in a contemporary way, rather than simply introducing and immitating traditional object. Design examples were organized and explained according to expressional method types.

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Improved Arctic Ocean Oxygen Isotope Stratigraphy Results from the Yermak Plateau (ODP Leg 151 : Site 910A)

  • ;Jochen, Knies;dreas , Mackensen;Jens, Matthiessen;Christoph, Vogt
    • Proceedings of the Korean Quaternary Association Conference
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    • 2004.06a
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    • pp.51-51
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    • 2004
  • As an important contribution to the planed drilling (IODP) in the central part of the Arctic Ocean, we are currently working on a refined chronostratigraphy for Marine Isotope Stage (MIS) 16 to MIS 2 on the exciting material from ODP Site 910A (Leg 151) which has been recovered from the marginal Eastern Arctic Ocean (the Yermak Plateau - the Atlantic/Arctic Ocean Gateway). Several stratigraphic age fix-points support the interpretation of the stable oxygen. isotope record of planktonic foraminifer N, pachyderma sin. that is punctuated by several short-term meltwater events. We believe that our new record will serve as 'the important correlating tool for establishing a basic stratigraphy for the Quaternary Arctic Ocean as well as for generating high-resolution paleoenvironmental reconstructions in the central Arctic Ocean. Furthermore, our study will provide reference stratigraphic data sets for interpreting the micropaleontological, sedimentological and organic / inorganic - geochemical proxies of the new boreholes that will be drilled on the Lomonosov Ridge(Central Arctic Ocean) in the frame of the "Arctic Coring Expedition' (ACEX, IODP) in summer 2004.

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A Study on the Construal Level and Intention of Autonomous Driving Taxi According to Message Framing (해석수준과 메시지 프레이밍에 따른 자율주행택시의 사용의도에 관한 연구)

  • Yoon, Seong Jeong;Kim, Min Yong
    • Journal of Intelligence and Information Systems
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    • v.24 no.3
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    • pp.135-155
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    • 2018
  • The purpose of this study is to analyze the difference of interpretation level and intention to use message framing when autonomous vehicle, which is emerging as the product of 4th industrial revolution, is used as taxi, Interpretation level refers to the interpretation of a product or service, assuming that it will happen in the near future or in the distant future. Message framing refers to the formation of positive or negative expressions or messages at the extremes of benefits and losses. In other words, previous studies interpret the value of a product or service differently according to these two concepts. The purpose of this study is to investigate whether there are differences in intention to use when two concepts are applied when an autonomous vehicle is launched as a taxi. The results are summarized as follows: First, the message format explaining the gain and why should be used when using the autonomous taxi in the message framing configuration, and the loss and how when the autonomous taxi is not used. Messages were constructed and compared. The two message framing differed (t = 3.063), and the message type describing the benefits and reasons showed a higher intention to use. In addition, the results according to interpretation level are summarized as follows. There was a difference in intentions to use when assuming that it would occur in the near future and in the near future with respect to the gain and loss, Respectively. In summary, in order to increase the intention of using autonomous taxis, it is concluded that messages should be given to people assuming positive messages (Gain) and what can happen in the distant future. In addition, this study will be able to utilize the research method in studying intention to use new technology. However, this study has the following limitations. First, it assumes message framing and time without user experience of autonomous taxi. This will be different from the actual experience of using an autonomous taxi in the future. Second, self-driving cars should technical progress is continuing, but laws and institutions must be established in order to commercialize it and build the infrastructure to operate the autonomous car. Considering this fact, the results of this study can not reflect a more realistic aspect. However, there is a practical limit to search for users with sufficient experience in new technologies such as autonomous vehicles. In fact, although the autonomous car to take advantage of the public transportation by taxi is now ready for the road infrastructure, and technical and legal public may not be willing to choose to not have enough knowledge to use the Autonomous cab. Therefore, the main purpose of this study is that by assuming that autonomous cars will be commercialized by taxi you can do to take advantage of the autonomous car, it is necessary to frame the message, why can most effectively be used to find how to deliver. In addition, the research methodology should be improved and future research should be done as follows. First, most students responded in this study. It is also true that it is difficult to generalize the hypotheses to be tested in this study. Therefore, in future studies, it would be reasonable to investigate the population of various distribution considering the age, area, occupation, education level, etc. Where autonomous taxi can be used rather than those who can drive. Second, it is desirable to construct various message framing of the questionnaire, but it is necessary to learn various message framing in advance and to prevent errors in response to the next message framing. Therefore, it is desirable to measure the message framing with a certain amount of time when the questionnaire is designed.