Dataset Information

Using Local Convolutional Neural Networks for Genomic Prediction.

ABSTRACT: The prediction of breeding values and phenotypes is of central importance for both livestock and crop breeding. In this study, we analyze the use of artificial neural networks (ANN) and, in particular, local convolutional neural networks (LCNN) for genomic prediction, as a region-specific filter corresponds much better with our prior genetic knowledge on the genetic architecture of traits than traditional convolutional neural networks. Model performances are evaluated on a simulated maize data panel (n = 10,000; p = 34,595) and real Arabidopsis data (n = 2,039; p = 180,000) for a variety of traits based on their predictive ability. The baseline LCNN, containing one local convolutional layer (kernel size: 10) and two fully connected layers with 64 nodes each, is outperforming commonly proposed ANNs (multi layer perceptrons and convolutional neural networks) for basically all considered traits. For traits with high heritability and large training population as present in the simulated data, LCNN are even outperforming state-of-the-art methods like genomic best linear unbiased prediction (GBLUP), Bayesian models and extended GBLUP, indicated by an increase in predictive ability of up to 24%. However, for small training populations, these state-of-the-art methods outperform all considered ANNs. Nevertheless, the LCNN still outperforms all other considered ANNs by around 10%. Minor improvements to the tested baseline network architecture of the LCNN were obtained by increasing the kernel size and of reducing the stride, whereas the number of subsequent fully connected layers and their node sizes had neglectable impact. Although gains in predictive ability were obtained for large scale data sets by using LCNNs, the practical use of ANNs comes with additional problems, such as the need of genotyping all considered individuals, the lack of estimation of heritability and reliability. Furthermore, breeding values are additive by design, whereas ANN-based estimates are not. However, ANNs also comes with new opportunities, as networks can easily be extended to account for additional inputs (omics, weather etc.) and outputs (multi-trait models), and computing time increases linearly with the number of individuals. With advances in high-throughput phenotyping and cheaper genotyping, ANNs can become a valid alternative for genomic prediction.

SUBMITTER: Pook T

PROVIDER: S-EPMC7689358 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Using Local Convolutional Neural Networks for Genomic Prediction.

Pook Torsten T Freudenthal Jan J Korte Arthur A Simianer Henner H

Frontiers in genetics 20201112

The prediction of breeding values and phenotypes is of central importance for both livestock and crop breeding. In this study, we analyze the use of artificial neural networks (ANN) and, in particular, local convolutional neural networks (LCNN) for genomic prediction, as a region-specific filter corresponds much better with our prior genetic knowledge on the genetic architecture of traits than traditional convolutional neural networks. Model performances are evaluated on a simulated maize data p ...[more]

PMID: 33281867

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Project description:MotivationThe correct localization of proteins in cell compartments is a key issue for their function. Particularly, mitochondrial proteins are physiologically active in different compartments and their aberrant localization contributes to the pathogenesis of human mitochondrial pathologies. Many computational methods exist to assign protein sequences to subcellular compartments such as nucleus, cytoplasm and organelles. However, a substantial lack of experimental evidence in public sequence databases hampered so far a finer grain discrimination, including also intra-organelle compartments.ResultsWe describe DeepMito, a novel method for predicting protein sub-mitochondrial cellular localization. Taking advantage of powerful deep-learning approaches, such as convolutional neural networks, our method is able to achieve very high prediction performances when discriminating among four different mitochondrial compartments (matrix, outer, inner and intermembrane regions). The method is trained and tested in cross-validation on a newly generated, high-quality dataset comprising 424 mitochondrial proteins with experimental evidence for sub-organelle localizations. We benchmark DeepMito towards the only one recent approach developed for the same task. Results indicate that DeepMito performances are superior. Finally, genomic-scale prediction on a highly-curated dataset of human mitochondrial proteins further confirms the effectiveness of our approach and suggests that DeepMito is a good candidate for genome-scale annotation of mitochondrial protein subcellular localization.Availability and implementationThe DeepMito web server as well as all datasets used in this study are available at http://busca.biocomp.unibo.it/deepmito. A standalone version of DeepMito is available on DockerHub at https://hub.docker.com/r/bolognabiocomp/deepmito. DeepMito source code is available on GitHub at https://github.com/BolognaBiocomp/deepmito.Supplementary informationSupplementary data are available at Bioinformatics online.

Project description:Motivation:In addition to substitution frequency data from protein sequence alignments, many state-of-the-art methods for contact prediction rely on additional sources of information, or features, of protein sequences in order to predict residue-residue contacts, such as solvent accessibility, predicted secondary structure, and scores from other contact prediction methods. It is unclear how much of this information is needed to achieve state-of-the-art results. Here, we show that using deep neural network models, simple alignment statistics contain sufficient information to achieve state-of-the-art precision. Our prediction method, DeepCov, uses fully convolutional neural networks operating on amino-acid pair frequency or covariance data derived directly from sequence alignments, without using global statistical methods such as sparse inverse covariance or pseudolikelihood estimation. Results:Comparisons against CCMpred and MetaPSICOV2 show that using pairwise covariance data calculated from raw alignments as input allows us to match or exceed the performance of both of these methods. Almost all of the achieved precision is obtained when considering relatively local windows (around 15 residues) around any member of a given residue pairing; larger window sizes have comparable performance. Assessment on a set of shallow sequence alignments (fewer than 160 effective sequences) indicates that the new method is substantially more precise than CCMpred and MetaPSICOV2 in this regime, suggesting that improved precision is attainable on smaller sequence families. Overall, the performance of DeepCov is competitive with the state of the art, and our results demonstrate that global models, which employ features from all parts of the input alignment when predicting individual contacts, are not strictly needed in order to attain precise contact predictions. Availability and implementation:DeepCov is freely available at https://github.com/psipred/DeepCov. Supplementary information:Supplementary data are available at Bioinformatics online.

Project description:BackgroundThe accurate identification of the exon/intron boundaries is critical for the correct annotation of genes with multiple exons. Donor and acceptor splice sites (SS) demarcate these boundaries. Therefore, deriving accurate computational models to predict the SS are useful for functional annotation of genes and genomes, and for finding alternative SS associated with different diseases. Although various models have been proposed for the in silico prediction of SS, improving their accuracy is required for reliable annotation. Moreover, models are often derived and tested using the same genome, providing no evidence of broad application, i.e. to other poorly studied genomes.ResultsWith this in mind, we developed the Splice2Deep models for SS detection. Each model is an ensemble of deep convolutional neural networks. We evaluated the performance of the models based on the ability to detect SS in Homo sapiens, Oryza sativa japonica, Arabidopsis thaliana, Drosophila melanogaster, and Caenorhabditis elegans. Results demonstrate that the models efficiently detect SS in other organisms not considered during the training of the models. Compared to the state-of-the-art tools, Splice2Deep models achieved significantly reduced average error rates of 41.97% and 28.51% for acceptor and donor SS, respectively. Moreover, the Splice2Deep cross-organism validation demonstrates that models correctly identify conserved genomic elements enabling annotation of SS in new genomes by choosing the taxonomically closest model.ConclusionsThe results of our study demonstrated that Splice2Deep both achieved a considerably reduced error rate compared to other state-of-the-art models and the ability to accurately recognize SS in other organisms for which the model was not trained, enabling annotation of poorly studied or newly sequenced genomes. Splice2Deep models are implemented in Python using Keras API; the models and the data are available at https://github.com/SomayahAlbaradei/Splice_Deep.git.

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Using Local Convolutional Neural Networks for Genomic Prediction.

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Using Local Convolutional Neural Networks for Genomic Prediction.

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