• 제목/요약/키워드: Sequence coverage

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Identification of Causal and/or Rare Genetic Variants for Complex Traits by Targeted Resequencing in Population-based Cohorts

  • Kim, Yun-Kyoung;Hong, Chang-Bum;Cho, Yoon-Shin
    • Genomics & Informatics
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    • 제8권3호
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    • pp.131-137
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    • 2010
  • Genome-wide association studies (GWASs) have greatly contributed to the identification of common variants responsible for numerous complex traits. There are, however, unavoidable limitations in detecting causal and/or rare variants for traits in this approach, which depends on an LD-based tagging SNP microarray chip. In an effort to detect potential casual and/or rare variants for complex traits, such as type 2 diabetes (T2D) and triglycerides (TGs), we conducted a targeted resequencing of loci identified by the Korea Association REsource (KARE) GWAS. The target regions for resequencing comprised whole exons, exon-intron boundaries, and regulatory regions of genes that appeared within 1 Mb of the GWA signal boundary. From 124 individuals selected in population-based cohorts, a total of 0.7 Mb target regions were captured by the NimbleGen sequence capture 385K array. Subsequent sequencing, carried out by the Roche 454 Genome Sequencer FLX, generated about 110,000 sequence reads per individual. Mapping of sequence reads to the human reference genome was performed using the SSAHA2 program. An average of 62.2% of total reads was mapped to targets with an average 22X-fold coverage. A total of 5,983 SNPs (average 846 SNPs per individual) were called and annotated by GATK software, with 96.5% accuracy that was estimated by comparison with Affymetrix 5.0 genotyped data in identical individuals. About 51% of total SNPs were singletons that can be considered possible rare variants in the population. Among SNPs that appeared in exons, which occupies about 20% of total SNPs, 304 nonsynonymous singletons were tested with Polyphen to predict the protein damage caused by mutation. In total, we were able to detect 9 and 6 potentially functional rare SNPs for T2D and triglycerides, respectively, evoking a further step of replication genotyping in independent populations to prove their bona fide relevance to traits.

Sentence-Chain Based Seq2seq Model for Corpus Expansion

  • Chung, Euisok;Park, Jeon Gue
    • ETRI Journal
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    • 제39권4호
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    • pp.455-466
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    • 2017
  • This study focuses on a method for sequential data augmentation in order to alleviate data sparseness problems. Specifically, we present corpus expansion techniques for enhancing the coverage of a language model. Recent recurrent neural network studies show that a seq2seq model can be applied for addressing language generation issues; it has the ability to generate new sentences from given input sentences. We present a method of corpus expansion using a sentence-chain based seq2seq model. For training the seq2seq model, sentence chains are used as triples. The first two sentences in a triple are used for the encoder of the seq2seq model, while the last sentence becomes a target sequence for the decoder. Using only internal resources, evaluation results show an improvement of approximately 7.6% relative perplexity over a baseline language model of Korean text. Additionally, from a comparison with a previous study, the sentence chain approach reduces the size of the training data by 38.4% while generating 1.4-times the number of n-grams with superior performance for English text.

전력선 통신을 이용한 plant 감시 제어 시스템 (Spread Spectrum Method based Power Line Communication for Plant Monitoring and Control System)

  • 서민상;성석경;안병규
    • 전력전자학회:학술대회논문집
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    • 전력전자학회 1997년도 전력전자학술대회 논문집
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    • pp.211-215
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    • 1997
  • Localized communication networks for office automation, security monitoring, environmental management of buildings, computer communications, and other applications enjoy every increasing demand. This paper proposes a direct sequence spread spectrum communication system for use in power line data transmission. Advantages of power distribution circuits include reasonably universal coverage and easy access vis a standard wall plug. Disadvantages include limited communication bandwidth, relatively high noise levels, and varying levels of impedance, noise, and attenuation. Spread spectrum signalling provides immunity to narrow-band signal impairments and multiplexing capability. Our prototype power line communication module supports completely physical and data link layers based on the international standard ISO 10368 for reliable high-speed power line communication system. Moreover it provides useful functions to compose a plant monitoring and control system. All the circuits of the communication module are included in one compact circuit. Thus a functional communication system for the power line plant monitoring and control is implemented.

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A Kernel-function-based Approach to Sequential Estimation with $\beta$-protection of Quantiles

  • 김성래;김성균
    • 한국전산응용수학회:학술대회논문집
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    • 한국전산응용수학회 2003년도 KSCAM 학술발표회 프로그램 및 초록집
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    • pp.14-14
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    • 2003
  • Given a sequence { $X_{n}$} of independent and identically distributed random variables with F, a sequential procedure for the p-th quantile ξ$_{P}$= $F^{-1}$ (P), 0$\beta$-protection. Some asymptotic properties for the proposed procedure and of an involved stopping time are proved: asymptotic consistency, asymptotic efficiency and asymptotic normality. From one of the results an effect of smoothing based on kernel functions is discussed. The results are also extended to the contaminated case.e.e.

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IEC61850 기반의 Gateway 개발을 위한 이슈에 관한 연구 (A study on the key Issues for implementing the IEC61850 based Gateway)

  • 오무남;이석배;우천희;김정수
    • 대한전기학회:학술대회논문집
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    • 대한전기학회 2009년도 제40회 하계학술대회
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    • pp.91_92
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    • 2009
  • As the increasing integrity of VLSI, the BIST(Built-In Self Test) is used as an effective method to test chips. Generally the pseudo-random test pattern generation is used for BIST. But it requires too many test patterns when there exist random resistant faults. Therefore we propose a mixed test scheme which applies to the circuit under test, a deterministic test sequence followed by a pseudo-random one. This scheme allows the maximum fault coverage detection to be achieved, furthermore the silicon area overhead of the mixed hardware generator can be reduced.

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Application of genotyping-by-sequencing (GBS) in plant genome using bioinformatics pipeline

  • Lee, Yun Gyeong;Kang, Chon-Sik;Kim, Changsoo
    • 한국작물학회:학술대회논문집
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    • 한국작물학회 2017년도 9th Asian Crop Science Association conference
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    • pp.58-58
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    • 2017
  • The advent of next generation sequencing technology has elicited plenty of sequencing data available in agriculturally relevant plant species. For most crop species, it is too expensive to obtain the whole genome sequence data with sufficient coverage. Thus, many approaches have been developed to bring down the cost of NGS. Genotyping-by-sequencing (GBS) is a cost-effective genotyping method for complex genetic populations. GBS can be used for the analysis of genomic selection (GS), genome-wide association study (GWAS) and constructing haplotype and genetic linkage maps in a variety of plant species. For efficiently dealing with plant GBS data, the TASSEL-GBS pipeline is one of the most popular choices for many researchers. TASSEL-GBS is JAVA based a software package to obtain genotyping data from raw GBS sequences. Here, we describe application of GBS and bioinformatics pipeline of TASSEL-GBS for analyzing plant genetics data.

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병렬 테스트 방법을 적용한 고집적 SRAM을 위한 내장된 자체 테스트 기법 (Built-in self test for high density SRAMs using parallel test methodology)

  • 강용석;이종철;강성호
    • 전자공학회논문지C
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    • 제35C권8호
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    • pp.10-22
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    • 1998
  • To handle the density increase of SRAMs, a new parallel testing methodology based on built-in self test (BIST) is developed, which allows to access multiple cells simultaneously. The main idea is that a march algorithm is dperformed concurently in each baisc marching block hwich makes up whole memory cell array. The new parallel access method is very efficient in speed and reuqires a very thny hardware overhead for BIST circuitry. Results show that the fault coverage of the applied march algorithm can be achieved with a lower complexity order. This new paralle testing algorithm tests an .root.n *.root.n SRAM which consists of .root.k * .root.k basic marching blocks in O(5*.root.k*(.root.k+.root.k)) test sequence.

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Double-Dwell Hybrid Acquisition in DS-UWB System

  • 왕우붕;장경희
    • 한국통신학회논문지
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    • 제31권7A호
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    • pp.696-701
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    • 2006
  • In this paper, we analyze the performance of double-dwell hybrid initial acquisition in DS-UWB system via detection, miss, false alarm probabilities and mean acquisition time. In the analysis, we consider the effect of the acquisition sequence, and deployment scenario of the abundant multipath components over the small coverage of the piconet in DS-UWB system. Based on the simulation, we obtain various performance on the mean acquisition time by varying the parameters, such as the total number of hypotheses to be searched, subgroup size, and dwell time. Then, we suggest the optimum parameter set for the initial acquisition in DS-UWB system.

대형 건축물과 주거 친화형 저 풍속 연곡형 적층 풍력발전 시스템에 관한 연구 (A Sturdy on the Sleep Twist Round type Stacked Wind Power System for Appling Environment-Friendly Building and High Rise Housing)

  • 정자춘;장미혜
    • 전기학회논문지
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    • 제60권4호
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    • pp.796-800
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    • 2011
  • As the increasing integrity of VLSI, the BIST(Built-In Self Test) is used as an effective method to test chips. Generally the pseudo-random test pattern generation is used for BIST. But it requires too many test patterns when there exist random resistant faults. Therefore we propose a mixed test scheme which applies to the circuit under test, a deterministic test sequence followed by a pseudo-random one. This scheme allows the maximum fault coverage detection to be achieved, furthermore the silicon area overhead of the mixed hardware generator can be reduced.

Effect of Microwave Irradiation Time on Microwave-Assisted Weak Acid Protein Hydrolysis

  • Kim, Dahee;Joo, Minhee;Lee, Dabin;Nguyen, Huu-Quang;Kim, Jeongkwon
    • Mass Spectrometry Letters
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    • 제10권3호
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    • pp.79-83
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    • 2019
  • Horse heart myoglobin (MYG) and bovine serum albumin (BSA) were hydrolyzed by microwave-assisted weak-acid hydrolysis for 10, 20, 30, 40, 50, and 60 min using 2% formic acid (FA) at $100^{\circ}C$. Generally, the number of identified peptides increased with increasing irradiation time, indicating that the duration of microwave irradiation is linked to the efficiency of hydrolysis. For MYG, irradiation for 60 min provided the highest number of identified peptides, the greatest sequence coverage values and the highest MASCOT score values among the investigated irradiation times. Irradiation of BSA for 50 min, however, yielded a greater number of peptides than irradiation for 60 min due to the generation of miscleaved peptides after microwave irradiation for 50 min.