KAML: improving genomic prediction accuracy of complex traits using machine learning determined parameters.
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ABSTRACT:
SUBMITTER: Yin L
PROVIDER: S-EPMC7386246 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Genetically informed, deep-phenotyped biobanks are an important research resource and it is imperative that the most powerful, versatile, and efficient analysis approaches are used. Here, we apply our recently developed Bayesian grouped mixture of regressions model (GMRM) in the UK and Estonian Biobanks and obtain the highest genomic prediction accuracy reported to date across 21 heritable traits. When compared to other approaches, GMRM accuracy was greater than annotation prediction models run in the LDAK or LDPred-funct software by 15% (SE 7%) and 14% (SE 2%), respectively, and was 18% (SE 3%) greater than a baseline BayesR model without single-nucleotide polymorphism (SNP) markers grouped into minor allele frequency-linkage disequilibrium (MAF-LD) annotation categories. For height, the prediction accuracy R2 was 47% in a UK Biobank holdout sample, which was 76% of the estimated [Formula: see text]. We then extend our GMRM prediction model to provide mixed-linear model association (MLMA) SNP marker estimates for genome-wide association (GWAS) discovery, which increased the independent loci detected to 16,162 in unrelated UK Biobank individuals, compared to 10,550 from BoltLMM and 10,095 from Regenie, a 62 and 65% increase, respectively. The average [Formula: see text] value of the leading markers increased by 15.24 (SE 0.41) for every 1% increase in prediction accuracy gained over a baseline BayesR model across the traits. Thus, we show that modeling genetic associations accounting for MAF and LD differences among SNP markers, and incorporating prior knowledge of genomic function, is important for both genomic prediction and discovery in large-scale individual-level studies.
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Project description:Feature selection (FS, i.e., selection of a subset of predictor variables) is essential in high-dimensional datasets to prevent overfitting of prediction/classification models and reduce computation time and resources. In genomics, FS allows identifying relevant markers and designing low-density SNP chips to evaluate selection candidates. In this research, several univariate and multivariate FS algorithms combined with various parametric and non-parametric learners were applied to the prediction of feed efficiency in growing pigs from high-dimensional genomic data. The objective was to find the best combination of feature selector, SNP subset size, and learner leading to accurate and stable (i.e., less sensitive to changes in the training data) prediction models. Genomic best linear unbiased prediction (GBLUP) without SNP pre-selection was the benchmark. Three types of FS methods were implemented: (i) filter methods: univariate (univ.dtree, spearcor) or multivariate (cforest, mrmr), with random selection as benchmark; (ii) embedded methods: elastic net and least absolute shrinkage and selection operator (LASSO) regression; (iii) combination of filter and embedded methods. Ridge regression, support vector machine (SVM), and gradient boosting (GB) were applied after pre-selection performed with the filter methods. Data represented 5,708 individual records of residual feed intake to be predicted from the animal's own genotype. Accuracy (stability of results) was measured as the median (interquartile range) of the Spearman correlation between observed and predicted data in a 10-fold cross-validation. The best prediction in terms of accuracy and stability was obtained with SVM and GB using 500 or more SNPs [0.28 (0.02) and 0.27 (0.04) for SVM and GB with 1,000 SNPs, respectively]. With larger subset sizes (1,000-1,500 SNPs), the filter method had no influence on prediction quality, which was similar to that attained with a random selection. With 50-250 SNPs, the FS method had a huge impact on prediction quality: it was very poor for tree-based methods combined with any learner, but good and similar to what was obtained with larger SNP subsets when spearcor or mrmr were implemented with or without embedded methods. Those filters also led to very stable results, suggesting their potential use for designing low-density SNP chips for genome-based evaluation of feed efficiency.
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Project description:Utilizing the whole genomic variation of complex traits to predict the yet-to-be observed phenotypes or unobserved genetic values via whole genome prediction (WGP) and to infer the underlying genetic architecture via genome wide association study (GWAS) is an interesting and fast developing area in the context of human disease studies as well as in animal and plant breeding. Though thousands of significant loci for several species were detected via GWAS in the past decade, they were not used directly to improve WGP due to lack of proper models. Here, we propose a generalized way of building trait-specific genomic relationship matrices which can exploit GWAS results in WGP via a best linear unbiased prediction (BLUP) model for which we suggest the name BLUP|GA. Results from two illustrative examples show that using already existing GWAS results from public databases in BLUP|GA improved the accuracy of WGP for two out of the three model traits in a dairy cattle data set, and for nine out of the 11 traits in a rice diversity data set, compared to the reference methods GBLUP and BayesB. While BLUP|GA outperforms BayesB, its required computing time is comparable to GBLUP. Further simulation results suggest that accounting for publicly available GWAS results is potentially more useful for WGP utilizing smaller data sets and/or traits of low heritability, depending on the genetic architecture of the trait under consideration. To our knowledge, this is the first study incorporating public GWAS results formally into the standard GBLUP model and we think that the BLUP|GA approach deserves further investigations in animal breeding, plant breeding as well as human genetics.
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Project description: Not available
| S-EPMC8012648 | biostudies-literature
Project description:BackgroundRecently, there has been a growing interest in the genetic improvement of body measurement traits in farm animals. They are widely used as predictors of performance, longevity, and production traits, and it is worthwhile to investigate the prediction accuracies of genomic selection for these traits. In genomic prediction, the single-step genomic best linear unbiased prediction (ssGBLUP) method allows the inclusion of information from genotyped and non-genotyped relatives in the analysis. Hence, we aimed to compare the prediction accuracy obtained from a pedigree-based BLUP only on genotyped animals (PBLUP-G), a traditional pedigree-based BLUP (PBLUP), a genomic BLUP (GBLUP), and a single-step genomic BLUP (ssGBLUP) method for the following 10 body measurement traits at yearling age of Hanwoo cattle: body height (BH), body length (BL), chest depth (CD), chest girth (CG), chest width (CW), hip height (HH), hip width (HW), rump length (RL), rump width (RW), and thurl width (TW). The data set comprised 13,067 phenotypic records for body measurement traits and 1523 genotyped animals with 34,460 single-nucleotide polymorphisms. The accuracy for each trait and model was estimated only for genotyped animals using five-fold cross-validations.ResultsThe accuracies ranged from 0.02 to 0.19, 0.22 to 0.42, 0.21 to 0.44, and from 0.36 to 0.55 as assessed using the PBLUP-G, PBLUP, GBLUP, and ssGBLUP methods, respectively. The average predictive accuracies across traits were 0.13 for PBLUP-G, 0.34 for PBLUP, 0.33 for GBLUP, and 0.45 for ssGBLUP methods. Our results demonstrated that averaged across all traits, ssGBLUP outperformed PBLUP and GBLUP by 33 and 43%, respectively, in terms of prediction accuracy. Moreover, the least root of mean square error was obtained by ssGBLUP method.ConclusionsOur findings suggest that considering the ssGBLUP model may be a promising way to ensure acceptable accuracy of predictions for body measurement traits, especially for improving the prediction accuracy of selection candidates in ongoing Hanwoo breeding programs.
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