• 제목/요약/키워드: Variant

검색결과 1,963건 처리시간 0.028초

Searching for Variants Using Trie-Index (트라이 인덱스를 이용한 이형태 검색)

  • Park, In-Cheol
    • Journal of the Korea Academia-Industrial cooperation Society
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    • 제10권8호
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    • pp.1986-1992
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    • 2009
  • A user often searches a data by inputting a variant such as the abbreviation or substring of a word, or a misspelled word. The simple approach to the searching for variants is to build a variants dictionary. However, it entails enormous cost and time and can not handle variants by misspelling. Approximate searching, searching by approximate string matching, is a good approach to the searching. A problem in the approach is that it cannot handle variants by abbreviations. This paper propose a method for searching various variants including abbreviations and misspelled words, by using the trie indexing. First, this paper shows a variant matching method with the calculation of path weighted-metric. In addition, it provides variant searching algorithm to reduce the search time.

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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    • 제17권1호
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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.

A Case of Columnar Cell Variant of Papillary Thyroid Carcinoma (갑상선 유두암 원주세포변형 1예)

  • Choe, Si Hong;Lee, Donghoo;Jung, Soo Jin;Kim, Do Hun
    • Journal of Clinical Otolaryngology Head and Neck Surgery
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    • 제29권2호
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    • pp.281-285
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    • 2018
  • Columnar cell variant of papillary thyroid carcinoma (CCV-PTC) is a rare variant representing 0.15-0.2% of all PTCs. The CCV is aggressive, due to its rapid growth, high local recurrence rate, and frequent lung, brain and bone metastasis. Aggressive surgical and medical management are recommended for these neoplasias. The authors experienced a case of CCV-PTC in a 45-year-old man. We performed total thyroidectomy with neck dissection. The patient received radiation and radioactive iodine therapy. There were no recurrences or complications in the following 24 months after the operation. The patient will closely undergo continuous follow up. We present the clinical characteristics, pathology, treatment, and prognosis of the tumor with a review of the literature.

Variant angina diagnosed on pre-hospital 12-lead electrocardiogram: A case report (병원 전 12-Lead ECG 측정을 통해 진단된 이형성 협심증 1례)

  • Kim, Ji-Won;Ki, Eunyoung
    • The Korean Journal of Emergency Medical Services
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    • 제25권1호
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    • pp.243-249
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    • 2021
  • A decrease in coronary blood flow leads to an imbalance between the supply of oxygen to the myocardium and its demand, and reversible or irreversible damage to the myocardium could occur depending on the severity of the resultant ischemia and the duration of the imbalance. This imbalance results in a cascade of ischemic reactions in the following order: metabolic abnormalities, diastolic dysfunction, systolic dysfunction, and electrocardiogram changes. Variant angina is caused by the closure of the coronary artery due to reversible coronary artery spasm, resulting in myocardial ischemia and subsequent chest pain as a clinical symptom. Variant angina may be observed as ST segment elevation in electrocardiogram measured when present in chest pain. However, 12-lead electrocardiogram performed after the patient's chest pain resolves does not help in the diagnosis. Since the duration of chest pain appears to be <15 minutes, it is important to perform the 12-lead electrocardiogram when clinical symptoms are present. If nitroglycerin is administered without performing 12-lead electrocardiogram by 119 pre-hospital paramedics, the chest pain would be resolved, making it impossible to identify changes in the ST segment. Before administration of nitroglycerin, changes in the ST segment must be recorded by performing 12-lead electrocardiogram.

Distribution and Inheritance of Trypsin Inhibitor Variant in Soybeans Grown in Korea (한국대두에서의 Trypsin Inhibitor Variant의 분포와 유전)

  • Choi, J.Y.;Chang, B.H.
    • KOREAN JOURNAL OF CROP SCIENCE
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    • 제26권1호
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    • pp.51-55
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    • 1981
  • Seed proteins of 51 varieties of soybean were separated by disc electrophoresis. Nine varieties had Rf 0.79 electrophoretic band, and 42 varieties had Rf 0.83 band. The frequency for Rf 0.79 was 0.176 and the frequency for Rf 0.83 was 0.824. The F_1 seeds of crossed between Kumgangdaepp (Rf 0.79) and Uidu (Rf 0.83) possessed both bands. Analysis of 96 F_2 seeds showed a ratio of 22 : 53 : 21 (Rf 0.79 : Rf 0.79/Rf 0.83 : Rf 0.83), suggesting single gene control with two co dominant alleles.

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A Study on Multi-Variant Execution Environment (Multi-Variant Execution Environment 연구 동향)

  • Cho, Myunghyun;Chang, Jiwon;Nam, Kevin;Hwang, Dongil;Paek, Yunheung
    • Proceedings of the Korea Information Processing Society Conference
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    • 한국정보처리학회 2020년도 춘계학술발표대회
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    • pp.275-278
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    • 2020
  • C 와 C++은 비교적 자유로운 코딩 환경으로 많은 프로그래머들에게 사랑받는 프로그래밍 언어이다. 또한, 빠른 속도와 호환성 덕분에 현재 많은 IOT, 임베디드 시스템에 적용되고 있다. C 와 C++은 자유로운 환경을 가지고 있는 반면에 프로그래머의 부주의한 코딩 방식에 의해 여러 취약점을 발생시켜 공격 범위를 증가시킬 수 있다. 다음은 외부 침입자에게 공격에 필요한 좋은 소스를 제공할 수 있으므로 이러한 공격을 막기 위한 범용적인 기술이 필요하다. 본 연구에서는 다음 취약점에 대한 공격을 막을 수 있는 기술 중 하나인 Multi-Variant Execution Environment(MVEE) 기술을 소개하고 다음 기술의 핵심인 다양한 Variant 생성 방식과 기존 연구 분석을 통해 한계점을 고찰하고자 한다.

Recognition Performance Improvement for Noisy-speech by Parallel Model Compensation Adaptation Using Frequency-variant added with ML (최대우도를 부가한 주파수 변이 PMC 방법의 잡음 음성 인식 성능개선)

  • Choi, Sook-Nam;Chung, Hyun-Yeol
    • Journal of Korea Multimedia Society
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    • 제16권8호
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    • pp.905-913
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    • 2013
  • The Parallel Model Compensation Using Frequency-variant: FV-PMC for noise-robust speech recognition is a method to classify the noises, which are expected to be intermixed with input speech when recognized, into several groups of noises by setting average frequency variant as a threshold value; and to recognize the noises depending on the classified groups. This demonstrates the excellent performance considering noisy speech categorized as good using the standard threshold value. However, it also holds a problem to decrease the average speech recognition rate with regard to unclassified noisy speech, for it conducts the process of speech recognition, combined with noiseless model as in the existing PMC. To solve this problem, this paper suggests a enhanced method of recognition to prevent the unclassified through improving the extent of rating scales with use of maximum likelihood so that the noise groups, including input noisy speech, can be classified into more specific groups, which leads to improvement of the recognition rate. The findings from recognition experiments using Aurora 2.0 database showed the improved results compared with those from the method of the previous FV-PMC.

Identification of strain harboring both aac(6')-Ib and aac(6')-Ib-cr variant simultaneously in Escherichia coli and Klebsiella pneumoniae

  • Kim, Yun-Tae;Jang, Ji-Hyun;Kim, Hyun-Chul;Kim, Hyo-Gyeong;Lee, Kyoung-Ryul;Park, Kyung-Sun;Lee, Hee-Joo;Kim, Young-Jin
    • BMB Reports
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    • 제44권4호
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    • pp.262-266
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    • 2011
  • The aac(6')-Ib gene is the most prevalent gene that encodes aminoglycoside-modifying enzymes and confers resistance to tobramycin, kanamycin, and amikacin. The aac(6')-Ib-cr variant gene can induce resistance against aminoglycoside and fluoroquinolone simultaneously. Two main methods, sequence analysis and the restriction enzyme method, can detect the aac(6')-Ib-cr variant in clinical strains. We collected the 85 strains that were believed to be aac(6')-Ib positive from clinical isolates. Among them, 38 strains were the wild-type; the remaining 47 strains were the aac(6')-Ib-cr variant. Of these 47 strains, 19 simultaneously harbored aac(6')-Ib and aac(6')-Ib-cr. Our study aims to report the characteristics of the 19 strains that simultaneously harbored both genes. This study is the first investigation published in Korea of strains that included both aac(6')-Ib and aac(6')-Ib-cr variant.

The Refinement Effect of Foreign Word Transliteration Query on Meta Search (메타 검색에서 외래어 질의 정제 효과)

  • Lee, Jae-Sung
    • The KIPS Transactions:PartB
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    • 제15B권2호
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    • pp.171-178
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    • 2008
  • Foreign word transliterations are not consistently used in documents, which hinders retrieving some important relevant documents in exact term matching information retrieval systems. In this paper, a meta search method is proposed, which expands and refines relevant variant queries from an original input foreign word transliteration query to retrieve the more relevant documents. The method firstly expands a transliteration query to the variants using a statistical method. Secondly the method selects the valid variants: it queries each variant to the retrieval systems beforehand and checks the validity of each variant by counting the number of appearance of the variant in the retrieved document and calculating the similarity of the context of the variant. Experiment result showed that querying with the variants produced at the first step, which is a base method of the test, performed 38% in average F measure, and querying with the refined variants at the second step, which is a proposed method, significantly improved the performance to 81% in average F measure.

The Relationship between Milk Protein Phenotypes and Lactation Traits in Brown Swiss and Canadienne

  • Kim, S.;Ng-Kwai-Hang, K.F.;Hayes, J.F.
    • Asian-Australasian Journal of Animal Sciences
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    • 제11권3호
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    • pp.311-317
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    • 1998
  • A total of 1033 Brown Swiss and 610 Canadienne cows were phenotyped for the genetic variants ${\alpha}_{s1}$-casein, ${\beta}$-casein, ${\kappa}$-casein, ${\beta}$-lactoglobulin and ${\alpha}$-lactalbumin. In Brown Swiss, frequency distributions were: 97.3% B and 2.7% C variant of ${\alpha}_{s1}$-casein; 31.6% $A^1$, 51.8% $A^2$, 0.5% $A^3$ and 16.1% B variant of ${\beta}$-casein; 70.4% A, 29.3% B, and 0.3% C variant of ${\kappa}$-casein; 41.7% A and 58.3% B variant of ${\beta}$-lactoglobulin; and 100% B variant of ${\alpha}$-lactalbumin. Corresponding frequencies in Canadienne for those five milk proteins were: 98.6 and 1.4%;58.5, 33.5, 0.08 and 7.9%; 78.8, 21.1 and 0.1%, 42.4 and 57.6%; and 100%. Analysis of variance by least squares showed possible association between milk protein phenotypes and some lactational production traits. There were no significant association of phenotypes of ${\alpha}_{s1}$-casein, ${\beta}$-casein and ${\beta}$-lactoglobulin with milk yield, fat yield, protein yield, fat percentage and protein percentage in both breeds during the three lactations. In the Brown Swiss, ${\kappa}$-casein phenotype was associated with 305-day fat yield and protein yield during the first lactation. ${\kappa}$-Casein AB was associated with higher milk, fat and protein yield during the second lactation. During the third lactation, ${\beta}$-lactoglobulin AA in Canadienne cows was associated with higher protein content in the milk (3.70%) when compared to phenotypes AB (3.54%) and BB (3.64%).