• Genomics & Informatics
• /
• 제6권4호
• /
• pp.231-234
• /
• 2008

Precise and reliable identification of CNV is still important to fully understand the effect of CNV on genetic diversity and background of complex diseases. SNP marker has been used frequently to detect CNVs, but the analysis of SNP chip data for identifying CNV has not been well established. We compared various normalization methods for CNV analysis and suggest optimal normalization procedure for reliable CNV call. Four normal Koreans and NA10851 HapMap male samples were genotyped using Affymetrix Genome-Wide Human SNP array 5.0. We evaluated the effect of median and quantile normalization to find the optimal normalization for CNV detection based on SNP array data. We also explored the effect of Robust Multichip Average (RMA) background correction for each normalization process. In total, the following 4 combinations of normalization were tried: 1) Median normalization without RMA background correction, 2) Quantile normalization without RMA background correction, 3) Median normalization with RMA background correction, and 4) Quantile normalization with RMA background correction. CNV was called using SW-ARRAY algorithm. We applied 4 different combinations of normalization and compared the effect using intensity ratio profile, box plot, and MA plot. When we applied median and quantile normalizations without RMA background correction, both methods showed similar normalization effect and the final CNV calls were also similar in terms of number and size. In both median and quantile normalizations, RMA backgroundcorrection resulted in widening the range of intensity ratio distribution, which may suggest that RMA background correction may help to detect more CNVs compared to no correction.

• Asian-Australasian Journal of Animal Sciences
• /
• 제23권4호
• /
• pp.417-424
• /
• 2010

The purpose of this study was to detect significant SNPs for carcass quality traits using DNA chips of high SNP density in Hanwoo populations. Carcass data of two hundred and eighty nine steers sired by 30 Korean proven sires were collected from two regions; the Hanwoo Improvement Center of National Agricultural Cooperative Federation in Seosan, Chungnam province and the commercial farms in Gyeongbuk province. The steers in Seosan were born between spring and fall of 2006 and those in Gyeonbuk between falls of 2004 and 2005. The former steers were slaughtered at approximately 24 months, while the latter steers were fed six months longer before slaughter. Among the 55,074 SNPs in the Illumina bovine 50K chip, a total of 32,756 available SNPs were selected for whole genome association study. After adjusting for the effects of sire, region and slaughter age, phenotypes were regressed on each SNP using a simple linear regression model. For the significance threshold, 0.1% point-wise p value from F distribution was used for each SNP test. Among the significant SNPs for a trait, the best set of SNP markers were selected using a stepwise regression procedure, and inclusion and exclusion of each SNP out of the model was determined at the p<0.001 level. A total of 118 SNPs were detected; 15, 20, 22, 28, 20, and 13 SNPs for final weight before slaughter, carcass weight, backfat thickness, weight index, longissimus dorsi muscle area, and marbling score, respectively. Among the significant SNPs, the best set of 44 SNPs was determined by stepwise regression procedures with 7, 9, 6, 9, 7, and 6 SNPs for the respective traits. Each set of SNPs per trait explained 20-40% of phenotypic variance. The number of detected SNPs per trait was not great in whole genome association tests, suggesting additional phenotype and genotype data are required to get more power to detect the trait-related SNPs with high accuracy for estimation of the SNP effect. These SNP markers could be applied to commercial Hanwoo populations via marker-assisted selection to verify the SNP effects and to improve genetic potentials in successive generations of the Hanwoo populations.

• 생명과학회지
• /
• 제22권3호
• /
• pp.366-372
• /
• 2012

본 연구는 한우 유전체 전장에 존재하는 고밀도 단일염기다형을 DNA chip을 이용하여 각각의 유전자형을 구명하고, 동일염색체 내에 존재하는 각 표지인자쌍의 연관불평형을 성 염색체를 제외한 모든 상염색체에서 추정하여 물리적 거리별 연관불평형의 정도를 확인하고 이러한 결과를 이용하여 한우 집단의 유효집단 크기를 추정하기 위하여 실시하였다. 한우개량사업소에서 2005년부터 2008년까지 후대검정에 공시된 후보종모우 및 후대 검정우 288두에 대해 혈액을 채취하고 Bovine SNP 50 DNA Chip을 이용하여 유전자형을 분석하였으며, 총 51,582 표지인자 중 결측률이 10% 이상인 표지인자 1개 및 다형성이 없는 표지인자 10,730개에 대해 사전제거를 실시하고 남은 40,851개의 SNP표지인자를 본 분석에 활용하였다. 연구 결과, 성 염색체를 제외한 상 염색체의 총 SNP표지인자의 길이는 2,541.6 Mb였으며, 염색체별 평균 SNP표지인자간 거리는 0.55에서 0.74로 분포하였으며, EM알고리즘을 이용하여 염색체별 연관불평형을 추정해 보았을 때, 기존의 보고된 연구와 유사하게 표지인자간 거리가 짧을수록 높게 나타나는 지수형태의 그래프를 나타냈으며, SNP표지인자간 거리에 따른 $r^2$를 보면, 0 Mb에서 0.1 Mb일 때 0.136, 0.1-0.2 Mb에서 0.06로 나타났다. Luo (1998)의 연구결과를 한우에 적용시켰을 때, 전체분산의 5%이상 설명하는 양적형질좌위 발굴을 위해서 약 2,000두의 표현형 자료가 필요할 것으로 사료되었다. 또한 한우의 세대별 유효집단 크기에 대해 추정해 본 결과, 현재 한우의 유효집단크기는 84두로 추정되었고, 지금으로부터 약 50세대 이전의 유효집단 크기는 1,150두로 추정되었다. 가축에서 인공수정이 도입(1960년대)된 이 후 개량의 가속화로 인해 한우의 유효집단 크기가 급격히 감소한 것으로 사료되었다.

• Asian-Australasian Journal of Animal Sciences
• /
• 제27권9호
• /
• pp.1219-1227
• /
• 2014

A whole genome association (WGA) study was carried out to find quantitative trait loci (QTL) for sensory evaluation traits in Hanwoo. Carcass samples of 250 Hanwoo steers were collected from National Agricultural Cooperative Livestock Research Institute, Ansung, Gyeonggi province, Korea, between 2011 and 2012 and genotyped with the Affymetrix Bovine Axiom Array 640K single nucleotide polymorphism (SNP) chip. Among the SNPs in the chip, a total of 322,160 SNPs were chosen after quality control tests. After adjusting for the effects of age, slaughter-year-season, and polygenic effects using genome relationship matrix, the corrected phenotypes for the sensory evaluation measurements were regressed on each SNP using a simple linear regression additive based model. A total of 1,631 SNPs were detected for color, aroma, tenderness, juiciness and palatability at 0.1% comparison-wise level. Among the significant SNPs, the best set of 52 SNP markers were chosen using a forward regression procedure at 0.05 level, among which the sets of 8, 14, 11, 10, and 9 SNPs were determined for the respectively sensory evaluation traits. The sets of significant SNPs explained 18% to 31% of phenotypic variance. Three SNPs were pleiotropic, i.e. AX-26703353 and AX-26742891 that were located at 101 and 110 Mb of BTA6, respectively, influencing tenderness, juiciness and palatability, while AX-18624743 at 3 Mb of BTA10 affected tenderness and palatability. Our results suggest that some QTL for sensory measures are segregating in a Hanwoo steer population. Additional WGA studies on fatty acid and nutritional components as well as the sensory panels are in process to characterize genetic architecture of meat quality and palatability in Hanwoo.

• 대한전기학회논문지:전기물성ㆍ응용부문C
• /
• 제53권5호
• /
• pp.286-292
• /
• 2004

In this study, an integrated microelectrode array was fabricated on glass slide using microfabrication technology. Probe DNAs consisting of mercaptohexyl moiety at their 5-end were spotted on the gold electrode using micropipette or DNA arrayer utilizing the affinity between gold and sulfur. Cyclic voltammetry in 5mM ferricyanide/ferrocyanide solution at 100 ㎷/s confirmed the immobilization of probe DNA on the gold electrodes. When several DNAs were detected electrochemically, there was a difference between target DNA and control DNA in the anodic peak current values. It was derived from specific binding of Hoechst 33258 to the double stranded DNA due to hybridization of target DNA. It suggested that this DNA chip could recognize the sequence specific genes. It suggested that multichannel electrochemical DNA microarray is useful to develop a portable device for clinical gene diagnostic System.

• ETRI Journal
• /
• 제38권6호
• /
• pp.1240-1249
• /
• 2016

With the number of IP cores in a multicore system-on-chip increasing to up to tens or hundreds, the role of on-chip interconnection networks is vital. We propose a networks-on-chip-style bus network as a compromise and redefine the exploration problem to find the best IP tiling patterns and communication path combinations. Before solving the problem, we estimate the time complexity and validate the infeasibility of the solution. To reduce the time complexity, we propose two fast exploration algorithms and develop a program to implement these algorithms. The program is executed for several experiments, and the exploration time is reduced to approximately 1/22 and 7/1,200 at the first and second steps of the exploration process, respectively. However, as a trade-off for the time saving, the time cost (TC) of the searched architecture is increased to up to 4.7% and 11.2%, respectively, at each step compared with that of the architecture obtained through full-case exploration. The reduction ratio can be decreased to 1/4,000 by simultaneously applying both the algorithms even though the resulting TC is increased to up to 13.1% when compared with that obtained through full-case exploration.

• Genomics & Informatics
• /
• 제10권3호
• /
• pp.200-205
• /
• 2012

Although a large number of single nucleotide polymorphisms (SNPs) have been identified from the bovine genome-sequencing project, few of these have been validated at large in Bos indicus breeds. We have genotyped 192 animals, representing 5 cattle populations of Ethiopia, with the Illumina Bovine 8K SNP BeadChip. These include 1 Sanga (Danakil), 3 zebu (Borana, Arsi and Ambo), and 1 zebu ${\times}$ Sanga intermediate (Horro) breeds. The Hanwoo (Bos taurus) was included for comparison purposes. Analysis of 7,045 SNP markers revealed that the mean minor allele frequency (MAF) was 0.23, 0.22, 0.21, 0.21, 0.23, and 0.29 for Ambo, Arsi, Borana, Danakil, Horro, and Hanwoo, respectively. Significant differences of MAF were observed between the indigenous Ethiopian cattle populations and Hanwoo breed (p < 0.001). Across the Ethiopian cattle populations, a common variant MAF (${\geq}0.10$ and ${\leq}0.5$) accounted for an overall estimated 73.79% of the 7,045 SNPs. The Hanwoo displayed a higher proportion of common variant SNPs (90%). Investigation within Ethiopian cattle populations showed that on average, 16.64% of the markers were monomorphic, but in the Hanwoo breed, only 6% of the markers were monomorphic. Across the sampled Ethiopian cattle populations, the mean observed and expected heterozygosities were 0.314 and 0.313, respectively. The level of SNP variation identified in this particular study highlights that these markers can be potentially used for genetic studies in African cattle breeds.

• Journal of Animal Science and Technology
• /
• 제63권6호
• /
• pp.1232-1246
• /
• 2021

Recently, the cattle genome sequence has been completed, followed by developing a commercial single nucleotide polymorphism (SNP) chip panel in the animal genome industry. In order to increase statistical power for detecting quantitative trait locus (QTL), a number of animals should be genotyped. However, a high-density chip for many animals would be increasing the genotyping cost. Therefore, statistical inference of genotype imputation (low-density chip to high-density) will be useful in the animal industry. The purpose of this study is to investigate the effect of the reference population size and marker density on the imputation accuracy and to suggest the appropriate number of reference population sets for the imputation in Hanwoo cattle. A total of 3,821 Hanwoo cattle were divided into reference and validation populations. The reference sets consisted of 50k (38,916) marker data and different population sizes (500, 1,000, 1,500, 2,000, and 3,600). The validation sets consisted of four validation sets (Total 889) and the different marker density (5k [5,000], 10k [10,000], and 15k [15,000]). The accuracy of imputation was calculated by direct comparison of the true genotype and the imputed genotype. In conclusion, when the lowest marker density (5k) was used in the validation set, according to the reference population size, the imputation accuracy was 0.793 to 0.929. On the other hand, when the highest marker density (15k), according to the reference population size, the imputation accuracy was 0.904 to 0.967. Moreover, the reference population size should be more than 1,000 to obtain at least 88% imputation accuracy in Hanwoo cattle.

• 한국작물학회:학술대회논문집
• /
• 한국작물학회 2020년도 춘계학술대회
• /
• pp.120-120
• /
• 2020

Based on the simple sequence repeat (SSR) marker, a Korean wheat core collection were established with 616 wheat accessions. Among them, the SNP genotyping for the entire genome was performed using DNA chip array to clarify the whole genome SNP profiles. Consequently, a total of 35,143 SNPs were found and we re-established a mini-core collection with 247 accessions. Population diversity and phylogenetic analysis revealed genetic diversity and relationships from the mini core set. In addition, genome-wide association study (GWAS) was performed on 19 phenotypic traits; ear type, awn length, culm length, ear length, awn color, seed coat color, culm color, ear color, loading, leaf length, leaf width, seeding stand, cold damage, weight, auricle, plant type, heading stage, maturation period, upright habit, and degree of flag leaf. The GWAS was performed using the fixed and random model circulating probability unification (FarmCPU), which identified 14 to 258 SNP loci related to 19 phenotypic traits. Our study indicates that this Korean wheat mini-core collection is a set of germplasm useful for basic and applied research with the aim of understanding and exploiting the genetic diversity of Korean wheat varieties.

• 생명과학회지
• /
• 제32권4호
• /
• pp.279-284
• /
• 2022

본 연구는 일반농가에서 적용 가능한 유전평가시스템을 구축을 위해 경기 지역에서 사육중인 암소 619두를 BLUP (Best Linear Unbiased Prediction)과 GBLUP (Genomic Best Linear Unbiased Prediction)을 사용하여 각 형질(도체중, 등심단면적, 등지방두께, 근내지방도) 별 추정 육종가의 정확도를 비교분석 하였다. GBLUP의 경우 참조집단의 크기를 다르게 그룹을 나누어 분석하였다. 분석결과 GBLUP 참조집단의 크기가 커질수록 각 형질의 육종가의 정확도도 상승하는 것을 확인 하였다. BLUP과 GBLUP 방법을 사용하여 추정한 육종가의 정확도를 비교하면, GBLUP 방법을 사용하여 육종가를 추정하였을 때 도체중, 등심단면적, 등지방두께 근내지방도순으로 각각 0.10, 0.09, 0.09, 0.11 이상 상승한 것을 확인할 수 있었다. 따라서, GBLUP 방법을 암소 평가 및 선발에 적용한다면, 정밀하고 정확한 개체 선발이 가능하고 참조집단의 크기를 더욱 키운다면 보다 정확한 개체 선발을 할 수 있기 때문에 선발의 효율성이 증가할 것으로 사료된다.