• 제목/요약/키워드: Genetic association test

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Multiple Group Testing Procedures for Analysis of High-Dimensional Genomic Data

  • Ko, Hyoseok;Kim, Kipoong;Sun, Hokeun
    • Genomics & Informatics
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    • 제14권4호
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    • pp.187-195
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    • 2016
  • In genetic association studies with high-dimensional genomic data, multiple group testing procedures are often required in order to identify disease/trait-related genes or genetic regions, where multiple genetic sites or variants are located within the same gene or genetic region. However, statistical testing procedures based on an individual test suffer from multiple testing issues such as the control of family-wise error rate and dependent tests. Moreover, detecting only a few of genes associated with a phenotype outcome among tens of thousands of genes is of main interest in genetic association studies. In this reason regularization procedures, where a phenotype outcome regresses on all genomic markers and then regression coefficients are estimated based on a penalized likelihood, have been considered as a good alternative approach to analysis of high-dimensional genomic data. But, selection performance of regularization procedures has been rarely compared with that of statistical group testing procedures. In this article, we performed extensive simulation studies where commonly used group testing procedures such as principal component analysis, Hotelling's $T^2$ test, and permutation test are compared with group lasso (least absolute selection and shrinkage operator) in terms of true positive selection. Also, we applied all methods considered in simulation studies to identify genes associated with ovarian cancer from over 20,000 genetic sites generated from Illumina Infinium HumanMethylation27K Beadchip. We found a big discrepancy of selected genes between multiple group testing procedures and group lasso.

Estimation of Genetic Parameters for First Lactation Monthly Test-day Milk Yields using Random Regression Test Day Model in Karan Fries Cattle

  • Singh, Ajay;Singh, Avtar;Singh, Manvendra;Prakash, Ved;Ambhore, G.S.;Sahoo, S.K.;Dash, Soumya
    • Asian-Australasian Journal of Animal Sciences
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    • 제29권6호
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    • pp.775-781
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    • 2016
  • A single trait linear mixed random regression test-day model was applied for the first time for analyzing the first lactation monthly test-day milk yield records in Karan Fries cattle. The test-day milk yield data was modeled using a random regression model (RRM) considering different order of Legendre polynomial for the additive genetic effect (4th order) and the permanent environmental effect (5th order). Data pertaining to 1,583 lactation records spread over a period of 30 years were recorded and analyzed in the study. The variance component, heritability and genetic correlations among test-day milk yields were estimated using RRM. RRM heritability estimates of test-day milk yield varied from 0.11 to 0.22 in different test-day records. The estimates of genetic correlations between different test-day milk yields ranged 0.01 (test-day 1 [TD-1] and TD-11) to 0.99 (TD-4 and TD-5). The magnitudes of genetic correlations between test-day milk yields decreased as the interval between test-days increased and adjacent test-day had higher correlations. Additive genetic and permanent environment variances were higher for test-day milk yields at both ends of lactation. The residual variance was observed to be lower than the permanent environment variance for all the test-day milk yields.

Genetic Persistency of First Lactation Milk Yield Estimated Using Random Regression Model for Indian Murrah Buffaloes

  • Geetha, E.;Chakravarty, A.K.;Vinaya Kumar, K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제19권12호
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    • pp.1696-1701
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    • 2006
  • A random regression model was applied for the first time for the analysis of test day records and to study the genetic persistency of first lactation milk yield of Indian Murrah buffaloes. Wilmink's Function was chosen to describe the shape of lactation curves. Heritabilities of test day milk yield varied from 0.33 to 0.58 in different test days. The highest heritability was found in the initial test day ($5^{th}$ day) milk yield. Genetic correlations among test day milk yields were higher in the initial test day milk yield and decreased when the test day interval was increased. The magnitude of genetic correlations between test day and 305 day milk yield varied from 0.25 to 0.99. The genetic persistencies of first lactation milk yield were estimated based on daily breeding values using two methods. $P_1$ is the genetic persistency estimated as a summation of the deviation of estimated daily breeding value on days to attain peak yield from each day after days to attain peak yield to different lactation days. $P_2$ is the genetic persistency estimated as the additional genetic yield (gained or lost) from days to attain peak yield to estimated breeding value on different lactation days relative to an average buffalo having the same yield on days to attain peak yield. The mean genetic persistency on 90, 120, 180, 240, 278 and 305 days in milk was estimated as -4.23, -21.67, -101.67, -229.57, -330.06 and -388.64, respectively by $P_1$, whereas by $P_2$ on same days in milk were estimated as -3.96 (-0.32 kg), -23.94 (-0.87 kg), -112.81 (-1.96 kg), -245.83 (-2.81 kg), -350.04 (-3.28 kg) and -407.58 (-3.40 kg) respectively. Higher magnitude of rank correlations indicated that the ranking of buffaloes based on their genetic persistency in both methods were similar for evaluation of genetic persistency of buffaloes. Based on the estimated range of genetic persistency three types of genetic persistency were identified. Genetic correlations among genetic persistency in different days in milk and between genetic persistencies on the same day in milk were very high. The genetic correlations between genetic persistency for different days in milk and estimated breeding value for 305 DIM was increased from 90 DIM to 180 DIM, and highest around 240 DIM which indicates a minimum of 240 days as an optimum first lactation length might be required for genetic evaluation of Indian Murrah buffaloes.

Genetic Variation and Phylogenetic Relationships of Indian Buffaloes of Uttar Pradesh

  • Joshi, Jyoti;Salar, R.K.;Banerjee, Priyanka;Upasna, S.;Tantia, M.S.;Vijh, R.K.
    • Asian-Australasian Journal of Animal Sciences
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    • 제26권9호
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    • pp.1229-1236
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    • 2013
  • India possesses a total buffalo population of 105 million out of which 26.1% inhabit Uttar Pradesh. The buffalo of Uttar Pradesh are described as nondescript or local buffaloes. Currently, there is no report about the genetic diversity, phylogenetic relationship and matrilineal genetic structure of these buffaloes. To determine the origin and genetic diversity of UP buffaloes, we sequenced and analysed the mitochondrial DNA D-loop sequences in 259 samples from entire Uttar Pradesh. One hundred nine haplotypes were identified in UP buffaloes that were defined by 96 polymorphic sites. We implemented neutrality tests to assess signatures of recent historical demographic events like Tajima's D test and Fu's Fs test. The phylogenetic studies revealed that there was no geographic differentiation and UP buffaloes had a single maternal lineage while buffaloes of Eastern UP were distinctive from rest of the UP buffaloes.

Genetic Variability and Association of Yield Attributing Characters with Grain Yield in Deepwater Rice

  • Bose L. K.;Pradhan S. K.;Mohanty A.;Nagaraju M.
    • 한국작물학회지
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    • 제50권4호
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    • pp.262-264
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    • 2005
  • A study on genetic variability and association of yield attributing characters with grain yield was carried out using 35 deepwater rice genotypes. High genotypic co-efficient of variation (GCV) was observed for plot yield, $EBT/m^2$, plant height and days to $50\%$ flowering (DFF). For all the traits, estimates of the phenotypic co-efficient of variation (PCV) were higher than GCV, indicating presence of environmental influence. High heritability and genetic advance was observed for plot yield, $EBT/m^2$ and plant height. Plot yield had significant positive association with test weight, $EBT/m^2$ and DFF. However, test weight had the maximum direct effect on grain yield

Genetic Parameters of Milk β-Hydroxybutyric Acid and Acetone and Their Genetic Association with Milk Production Traits of Holstein Cattle

  • Lee, SeokHyun;Cho, KwangHyun;Park, MiNa;Choi, TaeJung;Kim, SiDong;Do, ChangHee
    • Asian-Australasian Journal of Animal Sciences
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    • 제29권11호
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    • pp.1530-1540
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    • 2016
  • This study was conducted to estimate the genetic parameters of ${\beta}$-hydroxybutyrate (BHBA) and acetone concentration in milk by Fourier transform infrared spectroscopy along with test-day milk production traits including fat %, protein % and milk yield based on monthly samples of milk obtained as part of a routine milk recording program in Korea. Additionally, the feasibility of using such data in the official dairy cattle breeding system for selection of cows with low susceptibility of ketosis was evaluated. A total of 57,190 monthly test-day records for parities 1, 2, and 3 of 7,895 cows with pedigree information were collected from April 2012 to August 2014 from herds enrolled in the Korea Animal Improvement Association. Multi-trait random regression models were separately applied to estimate genetic parameters of test-day records for each parity. The model included fixed herd test-day effects, calving age and season effects, and random regressions for additive genetic and permanent environmental effects. Abundance of variation of acetone may provide a more sensitive indication of ketosis than many zero observations in concentration of milk BHBA. Heritabilities of milk BHBA levels ranged from 0.04 to 0.17 with a mean of 0.09 for the interval between 4 and 305 days in milk during three lactations. The average heritabilities for milk acetone concentration were 0.29, 0.29, and 0.22 for parities 1, 2, and 3, respectively. There was no clear genetic association of the concentration of two ketone bodies with three test-day milk production traits, even if some correlations among breeding values of the test-day records in this study were observed. These results suggest that genetic selection for low susceptibility of ketosis in early lactation is possible. Further, it is desirable for the breeding scheme of dairy cattle to include the records of milk acetone rather than the records of milk BHBA.

Genetic Evaluation of Somatic Cell Counts of Holstein Cattle in Zimbabwe

  • Mangwiro, F.K.;Mhlanga, F.N.;Dzama, K.;Makuza, S.M.
    • Asian-Australasian Journal of Animal Sciences
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    • 제13권10호
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    • pp.1347-1352
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    • 2000
  • The objectives of the study were to examine non-genetic factors that influence somatic cell counts in dairy cattle and to estimate the genetic parameters of somatic cell counts. A total of 34, 097-test day somatic cell count records were obtained from the Zimbabwe Dairy Services Association (ZDSA). The data were from 5, 615 Holstein daughters of 390 sires and 2, 541 dams tested between May 1994 and December 1998. First lactation cows contributed 22, 147 records to the data set, while 11, 950 records were from second and later parity cows. The model for analysis included fixed effects of month of calving, year of calving, stage of lactation, calving interval and test date. Milk yield and age on test day were fitted in the model as covariates. The additive genetic effects pertaining to cows, sires and dams and the residual error were the random effects. The Average Information Restricted Maximum Likelihood algorithm was used for analysis. The heritability of somatic cell scores was low at $0.027{\pm}0.013$ for parity one cows and $0.087{\pm}0.031$ for parity two and above. Repeatability estimates were $0.22{\pm}0.01$ and $0.30{\pm}0.01$ for the two lactation groups, respectively. Genetic and phenotypic correlations between the somatic cell scores and test day milk production were small and negative. It seems that there is no genetic link between somatic cell counts and milk yield in Holstein cattle in Zimbabwe. The results also seem to indicate that somatic cell count is a trait that is mainly governed by environmental factors.

미완결 발병연령에 근거한 연관성 추세 검정법의 비교 (Comparison of Trend Tests for Genetic Association on Censored Ages of Onset)

  • 윤혜경;송혜향
    • 응용통계연구
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    • 제21권6호
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    • pp.933-945
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    • 2008
  • 발병연령과 이에 관련되었다고 의심되는 좌위와의 연관성이 실제로 존재하는 경우에 유전자형 정보에 따라 발병연령(age of onset) 분포의 추세가 뚜렷하게 나타난다. 그러나 연관성 검정에서 주로 채택하고 있는 발병연령의 상한연령(cutoff age)을 제한하는 표본추출은 유전자형에 따른 여러 군의 미완결 자료의 분포가 다름을 초래하게 되며, 이러한 미완결 분포 차이는 발병연령의 추세 검정에 있어 효율성을 낮추는 원인이 된다. 일반적으로 두 군의 경우에 그 대책으로써 윌콕슨(Wilcoxon) 통계량보다는 미완결 자료의 분포가 다름에 영향을 덜 받는다고 알려진 로그순위(log-rank) 통계량을 사용한다. 본 논문에서는 로그순위 통계량 적용을 유전자형에 따른 여러 군의 경우로 확장하여 Jones와 Browley (1989)에 언급된 일반화 로그순위 추세 검정통계량(generalized log-rank statistic for trend)을 제안하며, 연관성 연구에서 이 검정통계량과 여러 다른 추세 검정통계량의 효율성을 모의실험으로 알아본다.

Genetic Analysis of Milk Yield in First-Lactation Holstein Friesian in Ethiopia: A Lactation Average vs Random Regression Test-Day Model Analysis

  • Meseret, S.;Tamir, B.;Gebreyohannes, G.;Lidauer, M.;Negussie, E.
    • Asian-Australasian Journal of Animal Sciences
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    • 제28권9호
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    • pp.1226-1234
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    • 2015
  • The development of effective genetic evaluations and selection of sires requires accurate estimates of genetic parameters for all economically important traits in the breeding goal. The main objective of this study was to assess the relative performance of the traditional lactation average model (LAM) against the random regression test-day model (RRM) in the estimation of genetic parameters and prediction of breeding values for Holstein Friesian herds in Ethiopia. The data used consisted of 6,500 test-day (TD) records from 800 first-lactation Holstein Friesian cows that calved between 1997 and 2013. Co-variance components were estimated using the average information restricted maximum likelihood method under single trait animal model. The estimate of heritability for first-lactation milk yield was 0.30 from LAM whilst estimates from the RRM model ranged from 0.17 to 0.29 for the different stages of lactation. Genetic correlations between different TDs in first-lactation Holstein Friesian ranged from 0.37 to 0.99. The observed genetic correlation was less than unity between milk yields at different TDs, which indicated that the assumption of LAM may not be optimal for accurate evaluation of the genetic merit of animals. A close look at estimated breeding values from both models showed that RRM had higher standard deviation compared to LAM indicating that the TD model makes efficient utilization of TD information. Correlations of breeding values between models ranged from 0.90 to 0.96 for different group of sires and cows and marked re-rankings were observed in top sires and cows in moving from the traditional LAM to RRM evaluations.

Estimation of genetic parameters and trends for production traits of dairy cattle in Thailand using a multiple-trait multiple-lactation test day model

  • Buaban, Sayan;Puangdee, Somsook;Duangjinda, Monchai;Boonkum, Wuttigrai
    • Asian-Australasian Journal of Animal Sciences
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    • 제33권9호
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    • pp.1387-1399
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    • 2020
  • Objective: The objective of this study was to estimate the genetic parameters and trends for milk, fat, and protein yields in the first three lactations of Thai dairy cattle using a 3-trait,-3-lactation random regression test-day model. Methods: Data included 168,996, 63,388, and 27,145 test-day records from the first, second, and third lactations, respectively. Records were from 19,068 cows calving from 1993 to 2013 in 124 herds. (Co) variance components were estimated by Bayesian methods. Gibbs sampling was used to obtain posterior distributions. The model included herd-year-month of testing, breed group-season of calving-month in tested milk group, linear and quadratic age at calving as fixed effects, and random regression coefficients for additive genetic and permanent environmental effects, which were defined as modified constant, linear, quadratic, cubic and quartic Legendre coefficients. Results: Average daily heritabilities ranged from 0.36 to 0.48 for milk, 0.33 to 0.44 for fat and 0.37 to 0.48 for protein yields; they were higher in the third lactation for all traits. Heritabilities of test-day milk and protein yields for selected days in milk were higher in the middle than at the beginning or end of lactation, whereas those for test-day fat yields were high at the beginning and end of lactation. Genetics correlations (305-d yield) among production yields within lactations (0.44 to 0.69) were higher than those across lactations (0.36 to 0.68). The largest genetic correlation was observed between the first and second lactation. The genetic trends of 305-d milk, fat and protein yields were 230 to 250, 25 to 29, and 30 to 35 kg per year, respectively. Conclusion: A random regression model seems to be a flexible and reliable procedure for the genetic evaluation of production yields. It can be used to perform breeding value estimation for national genetic evaluation in the Thai dairy cattle population.