• Title/Summary/Keyword: SNP analysis

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Association Analysis between Insulin-like Growth Factor Binding Protein 3 (IGFBP3) Polymorphisms and Carcass Traits in Cattle

  • Cheong, Hyun Sub;Yoon, Du-Hak;Kim, Lyoung Hyo;Park, Byung Lae;Lee, Hye Won;Namgoong, Sohg;Kim, Eun Mi;Chung, Eui Ryong;Cheong, Il-Cheong;Shin, Hyoung Doo
    • Asian-Australasian Journal of Animal Sciences
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    • v.21 no.3
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    • pp.309-313
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    • 2008
  • The insulin-like growth factor binding protein 3 (IGFBP3) has been investigated as a candidate gene for growth promoting effects in beef cattle and a modulator of IGF bioactivity. Previously, we have reported twenty two sequence variants discovered in Korean native cattle (Hanwoo). In this study, we examined the association between gene-specific polymorphisms of IGFBP3 and cold carcass weight (CW) and marbling score (MS) among Korean native cattle. Among twenty two polymorphisms, four common polymorphic sites (-854G>C, -100G>A, +421G>T and +3863C>A) were genotyped in our beef cattle (n = 437). Statistical analysis revealed that one common polymorphism in the promoter region (-854G>C) showed putative associations with MS (p = 0.03). IGFBP3 variation/haplotype information analyzed in this study will provide valuable information into strategies for the production of a commercial line of beef cattle.

Data Mining Techniques for Medical Informatics: Application to SNP Analysis

  • Chun, Se-Hak;Kim, Jin;Park, Yoon-Joo;Ham, Ki-Baek;Chun, Se-Chul
    • Proceedings of the Korea Inteligent Information System Society Conference
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    • 2005.11a
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    • pp.258-263
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    • 2005
  • Haplotype-based analysis using high-density SNP markers have gained a great attention in evaluating genes in gene analysis and various clinical situations. However, there has been no research on disease diagnostic modeling based on SNPs analysis to our knowledge. The purpose of this study is to explore how knowledge discovery techniques are applied in medical informatics area and proposes a Case Based Reasoning (CBR) technique for diagnosis of gastric caner using Single Nucleotide Polymorphism(SNP).

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SNP Detection of Carboxypeptidase E Gene and Its Association with Meat Quality and Carcass Traits in Korean Cattle

  • Shin, S.C.;Chung, E.R.
    • Asian-Australasian Journal of Animal Sciences
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    • v.20 no.3
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    • pp.328-333
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    • 2007
  • Carboxypeptidase E (CPE) plays an important role in the regulation of the body fat content. Therefore, it has been suggested as candidate gene for traits related to meat quality in beef cattle. This study was conducted to identify single nucleotide polymorphisms (SNPs) in the CPE gene and to investigate association of SNP marker with carcass and meat quality traits in Korean cattle. Three SNPs were identified in the intron 4 (A309G SNP and C445T SNP) and exon 5 (C601T SNP) of the CPE gene by sequence analyses of CPE cDNA and genomic DNA samples. The sequences have been deposited in GenBank database with accession numbers AY970664 and AY970663. Genotyping of the gene-specific SNP marker was carried out using the PCR-RFLP with restriction enzymes DdeI for C445T SNP and NlaIII for C601T SNP. The frequencies of C and T alleles were 0.43 and 0.57 for C445T SNP and 0.42 and 0.58 for C601T SNP, respectively. Statistical analysis indicated that the C445T SNP showed a significant effect (p<0.05) on marbling score (MS) and breeding value of backfat thickness (BF-EBV), respectively. Animals with the CT genotype showed higher marbling score and backfat thickness than those with the TT genotype. This marker also showed a significant dominance effect for the MS and BF-EBV (p<0.05). However, no significant associations were observed between C601T SNP genotypes and all traits examined. The results suggest that the CPE gene may be used as a marker for carcass traits in Korean cattle.

Single-nucleotide polymorphism-based epidemiological analysis of Korean Mycobacterium bovis isolates

  • Kim, Tae-Woon;Jang, Yun-Ho;Jeong, Min Kyu;Seo, Yoonjeong;Park, Chan Ho;Kang, Sinseok;Lee, Young Ju;Choi, Jeong-Soo;Yoon, Soon-Seek;Kim, Jae Myung
    • Journal of Veterinary Science
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    • v.22 no.2
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    • pp.24.1-24.16
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    • 2021
  • Background: Bovine tuberculosis (TB) is caused by Mycobacterium bovis, a well-known cause of zoonotic tuberculosis in cattle and deer, and has been investigated in many physiological and molecular studies. However, detailed genome-level studies of M. bovis have not been performed in Korea. Objectives: To survey whole genome-wide single-nucleotide polymorphism (SNP) variants in Korean M. bovis field isolates and to define M. bovis groups in Korea by comparing SNP typing with spoligotyping and variable number tandem repeat typing. Methods: A total of 46 M. bovis field isolates, isolated from laryngopharyngeal lymph nodes and lungs of Korean cattle, wild boar, and Korean water deer, were used to identify SNPs by performing whole-genome sequencing. SNP sites were confirmed via polymerase chain reaction using 87 primer pairs. Results: We identified 34 SNP sites with different frequencies across M. bovis isolates, and performed SNP typing and epidemiological analysis, which divided the 46 field isolates into 16 subtypes. Conclusions: Through SNP analysis, detailed differences in samples with identical spoligotypes could be detected. SNP analysis is, therefore, a useful epidemiological tracing tool that could enable better management of bovine TB, thus preventing further outbreaks and reducing the impact of this disease.

High Level of Sequence-Variation in Sacbrood Virus (SBV) from Apis mellifera

  • Truong, A-Tai;Kim, Jung-Min;Lim, Su-Jin;Yoo, Mi-Sun;Cho, Yun Sang;Yoon, Byoung-Su
    • Journal of Apiculture
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    • v.32 no.4
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    • pp.281-293
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    • 2017
  • Sacbrood virus (SBV) is one of the main pathogenic RNA viruses of honeybee. SBV is found worldwide and many local strains have been reported, such as kSBV, cSBV, and wSBV. In this study, SBV-specific DNA fragments were cloned and sequenced by reverse-transcription PCR from 4 populations of A. mellifera, 4 sequences from 1 population belonged to the 2134D51 genotype (349 nucleotides, nt) and 12 sequences from 3 populations belonged to the 2100D0 genotype (400 nt) among the 16 determined sequences. A total of 87 points of mismatches were found by comparison with the most similar sequences in GenBank. Seventeen single-nucleotide polymorphisms (SNP) were detected, and 6 SNP-patterns in the 2100D0 genotype and 2 SNP-patterns in the 2134D51 genotype were identified based on SNP positions. In SNP-pattern 2, 10 SNPs were detected, but only 2 SNPs were found in SNP-pattern7. Meanwhile, one SNP-pattern was found from one RNA-sample, multi SNP-patterns were detected from other RNA-samples. Large numbers of SNP variants indicate that vast numbers of point-mutations on SBV have occurred since SBV invaded Korea and that SNP smay have been introduced individually over time. Thorough analysis of SNP variants will not only define the local infection-route, but also the relationships between SNP-pattern and SBV-pathogenic abilities.

NGSOne: Cloud-based NGS data analysis tool (NGSOne: 클라우드 기반의 유전체(NGS) 데이터 분석 툴)

  • Kwon, Chang-hyuk;Kim, Jason;Jang, Jeong-hwa;Ahn, Jae-gyoon
    • Journal of Platform Technology
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    • v.6 no.4
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    • pp.87-95
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    • 2018
  • With the decrease of sequencing price, many national projects that analyzes 0.1 to 1 million people are now in progress. However, large portion of budget of these large projects is dedicated for construction of the cluster system or purchase servers, due to the lack of programs or systems that can handle large amounts of data simultaneously. In this study, we developed NGSOne, a client program that is easy-to-use for even biologists, and performs SNP analysis using hundreds or more of Whole Genome and Whole Exome analysis without construction of their own server or cluster environment. DRAGEN, BWA / GATK, and Isaac / Strelka2, which are representative SNP analysis tools, were selected and DRAGEN showed the best performance in terms of execution time and number of errors. Also, NGSOne can be extended for various analysis tools as well as SNP analysis tools.

Development of an SNP set for marker-assisted breeding based on the genotyping-by-sequencing of elite inbred lines in watermelon (수박 엘리트 계통의 GBS를 통한 마커이용 육종용 SNP 마커 개발)

  • Lee, Junewoo;Son, Beunggu;Choi, Youngwhan;Kang, Jumsoon;Lee, Youngjae;Je, Byoung Il;Park, Younghoon
    • Journal of Plant Biotechnology
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    • v.45 no.3
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    • pp.242-249
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    • 2018
  • This study was conducted to develop an SNP set that can be useful for marker-assisted breeding (MAB) in watermelon (Citrullus. lanatus L) using Genotyping-by-sequencing (GBS) analysis of 20 commercial elite watermelon inbreds. The result of GBS showed that 77% of approximately 1.1 billion raw reads were mapped on the watermelon genome with an average mapping region of about 4,000 Kb, which indicated genome coverage of 2.3%. After the filtering process, a total of 2,670 SNPs with an average depth of 31.57 and the PIC (Polymorphic Information Content) value of 0.1~0.38 for 20 elite inbreds were obtained. Among those SNPs, 55 SNPs (5 SNPs per chromosome that are equally distributed on each chromosome) were selected. For the understanding genetic relationship of 20 elite inbreds, PCA (Principal Component Analysis) was carried out with 55 SNPs, which resulted in the classification of inbreds into 4 groups based on PC1 (52%) and PC2 (11%), thus causing differentiation between the inbreds. A similar classification pattern for PCA was observed from hierarchical clustering analysis. The SNP set developed in this study has the potential for application to cultivar identification, F1 seed purity test, and marker-assisted backcross (MABC) not only for 20 elite inbreds but also for diverse resources for watermelon breeding.

A Quantitative Communication Performance Analysis of Multi-Layered Bus-Based SoC Architectures (다중 버스 기반 SoC 구조의 정량적 통신 성능 분석)

  • Lee, Jaesung;Park, Jae-Hong
    • Proceedings of the Korean Institute of Information and Commucation Sciences Conference
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    • 2012.10a
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    • pp.780-783
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    • 2012
  • Recently, the SoC industry mainly uses various multi-layered bus architectures. However, reckless use of bus layers may results in on-chip communication resources and waste of silicon area. This paper performs a quantitative analysis to compare the two de-facto on-chip buses and SNP. Through the performance estimation, the performance of SNP turns out to be significantly enhanced for asymmetric write and read traffic (non-central F distribution) while symmetric traffic is similar to that of AXI. More specifically, SNP properly places IP cores on the top or bottom, induces the write and read channels to be balanced, and achieves about twenty percent improved performance compared to AXI.

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Effective Analysis Of SNP Related Gastric Cancer Using SNP (SVM을 이용한 효율적인 위암관련 SNP 정보분석)

  • Kim Dong-Hoi;Kim Yu-Seop;Cheon Se-Hak;Cheon Se-Cheol;Ham Ki-Baek;Kim Jin
    • Annual Conference of KIPS
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    • 2006.05a
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    • pp.435-438
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    • 2006
  • Single Nucleotide Polymorphism(SNP)는 인간 유전자 서열의 0.1%에 해당하는 부분으로 이는 각 개인의 체질 및 각종 유전질환과 밀접한 관련이 있다고 알려져 있으며 이 SNP 정보를 이용 각종 질환의 유전적 원인규명에 대한 많은 생물학적 연구가 진행되고 있다. 그러나 아직 SNP를 이용한 효율적인 분석방법에 대한 전산학적 연구는 많지 않다. 본 논문에서는 대표적인 패턴인식기 중 하나인 Support Vector Machine(SVM)을 이용 한국인의 대표적인 유전질환으로 알려진 위암에 대한 예측율을 실험하였다. 실험 데이터는 간 및 소화기 질환 유전체 센터에서 얻어진 위 질환 환자를 대상으로 하였으며 실험 결과 예측율은 67.3%로 이는 Case Based Reasoning(CBR)방법의 55% 보다 더 좋은 예측 결과를 보였다.

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Automated Analysis of TDGS Image for SNP Discovery (SNP 발견을 위한 TDGS (Two-Dimensional Gene Scanning) 영상의 분석)

  • Chang, Hwan;Park, You-Na;Lee, Bog-Ju
    • Proceedings of the Korean Information Science Society Conference
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    • 2003.04c
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    • pp.238-240
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    • 2003
  • 게놈 프로젝트에 의해 인간 유전자 영기서열이 밝혀지면서 개개인의 유전자에 나타나는 SNP(Single Nucleotide Polymorphism)을 분석하여 질병의 진단과 예후, 치료와 예방이 미래에 가능하게 되었다. 본 논문은 그러한 SNP 분석을 위한 자동 분석 시스템의 영상 처리 과정으로서, 기존의 육안을 통해 분석하였던 TDGS 영상을 본 시스템의 자동적인 영상 처리 과정을 통해 SNP 분석을 위한 디지털 패턴을 추출한다. SNP 분석을 위해 사용되는 샘플은 대략 수백개가 되는데, 실험이라는 특성상 영상에 나타나는 불규칙한 요소들이 많고. 영상의 상태가 좋지 않은 경우 명암도가 낮은 반점들의 구분이 힘들게 된다. 본 논문에서는 TDGS 영상의 지역적 특성을 가장 잘 반영하기 위한 동적 이진화의 새로운 척도를 제안하였고, 영상에서 잡영과 배경을 제거한 후 남겨진 관심영역을 반점으로 판별하여 이를 디지털 패턴으로 추출한 결과를 보여 준다.

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