scholarly journals The importance of disease incidence rate on performance of GBLUP, threshold BayesA and machine learning methods in original and imputed data set

2020 ◽  
Vol 18 (3) ◽  
pp. e0405
Author(s):  
Yousef Naderi ◽  
Saadat Sadeghi
Keyword(s):  
Machine Learning ◽  
Disease Incidence ◽  
Predictive Ability ◽  
High Sensitivity ◽  
Machine Learning Algorithms ◽  
Genotype Imputation ◽  
Nucleotide Polymorphisms ◽  
Data Set ◽  
Single Nucleotide ◽  
Boosting Method

Aim of study: To predict genomic accuracy of binary traits considering different rates of disease incidence.Area of study: SimulationMaterial and methods: Two machine learning algorithms including Boosting and Random Forest (RF) as well as threshold BayesA (TBA) and genomic BLUP (GBLUP) were employed. The predictive ability methods were evaluated for different genomic architectures using imputed (i.e. 2.5K, 12.5K and 25K panels) and their original 50K genotypes. We evaluated the three strategies with different rates of disease incidence (including 16%, 50% and 84% threshold points) and their effects on genomic prediction accuracy.Main results: Genotype imputation performed poorly to estimate the predictive ability of GBLUP, RF, Boosting and TBA methods when using the low-density single nucleotide polymorphisms (SNPs) chip in low linkage disequilibrium (LD) scenarios. The highest predictive ability, when the rate of disease incidence into the training set was 16%, belonged to GBLUP, RF, Boosting and TBA methods. Across different genomic architectures, the Boosting method performed better than TBA, GBLUP and RF methods for all scenarios and proportions of the marker sets imputed. Regarding the changes, the RF resulted in a further reduction compared to Boosting, TBA and GBLUP, especially when the applied data set contained 2.5K panels of the imputed genotypes.Research highlights: Generally, considering high sensitivity of methods to imputation errors, the application of imputed genotypes using RF method should be carefully evaluated.

scholarly journals A Machine Learning-Based Identification of Genes Affecting the Pharmacokinetics of Tacrolimus Using the DMETTM Plus Platform

2020 ◽  
Vol 21 (7) ◽  
pp. 2517
Author(s):  
Jeong-An Gim ◽  
Yonghan Kwon ◽  
Hyun A Lee ◽  
Kyeong-Ryoon Lee ◽  
Soohyun Kim ◽  
...  
Keyword(s):  
Machine Learning ◽  
Random Forest ◽  
Decision Tree ◽  
Therapeutic Index ◽  
Immunosuppressive Drug ◽  
Machine Learning Algorithms ◽  
Nucleotide Polymorphisms ◽  
Lasso Regression ◽  
Single Nucleotide ◽  
Selection Operator

Tacrolimus is an immunosuppressive drug with a narrow therapeutic index and larger interindividual variability. We identified genetic variants to predict tacrolimus exposure in healthy Korean males using machine learning algorithms such as decision tree, random forest, and least absolute shrinkage and selection operator (LASSO) regression. rs776746 (CYP3A5) and rs1137115 (CYP2A6) are single nucleotide polymorphisms (SNPs) that can affect exposure to tacrolimus. A decision tree, when coupled with random forest analysis, is an efficient tool for predicting the exposure to tacrolimus based on genotype. These tools are helpful to determine an individualized dose of tacrolimus.

scholarly journals Single-Nucleotide Polymorphisms Promote Dysregulation Activation by Essential Gene Mediated Bio-Molecular Interaction in Breast Cancer

2021 ◽  
Vol 11 ◽  
Author(s):  
Xue Wang ◽  
Zihui Zhao ◽  
Xueqing Han ◽  
Yutong Zhang ◽  
Yitong Zhang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Machine Learning ◽  
Single Nucleotide Polymorphisms ◽  
Molecular Mechanism ◽  
Essential Gene ◽  
Expression Profiles ◽  
Machine Learning Algorithms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Clinical Prognosis

BackgroundBreast cancer (BRCA) is a malignant tumor with a high mortality rate and poor prognosis in patients. However, understanding the molecular mechanism of breast cancer is still a challenge.Materials and MethodsIn this study, we constructed co-expression networks by weighted gene co-expression network analysis (WGCNA). Gene-expression profiles and clinical data were integrated to detect breast cancer survival modules and the leading genes related to prognostic risk. Finally, we introduced machine learning algorithms to build a predictive model aiming to discover potential key biomarkers.ResultsA total of 42 prognostic modules for breast cancer were identified. The nomogram analysis showed that 42 modules had good risk assessment performance. Compared to clinical characteristics, the risk values carried by genes in these modules could be used to classify the high-risk and low-risk groups of patients. Further, we found that 16 genes with significant differential expressions and obvious bridging effects might be considered biological markers related to breast cancer. Single-nucleotide polymorphisms on the CYP24A1 transcript induced RNA structural heterogeneity, which affects the molecular regulation of BRCA. In addition, we found for the first time that ABHD11-AS1 was significantly highly expressed in breast cancer.ConclusionWe integrated clinical prognosis information, RNA sequencing data, and drug targets to construct a breast cancer–related risk module. Through bridging effect measurement and machine learning modeling, we evaluated the risk values of the genes in the modules and identified potential biomarkers for breast cancer. The protocol provides new insight into deciphering the molecular mechanism and theoretical basis of BRCA.

Assessing single nucleotide polymorphism selection methods for the development of a low-density panel optimized for imputation in South African Drakensberger beef cattle

2021 ◽  
Author(s):  
Simon F Lashmar ◽  
Donagh P Berry ◽  
Rian Pierneef ◽  
Farai C Muchadeyi ◽  
Carina Visser
Keyword(s):  
South African ◽  
Clustering Algorithm ◽  
Imputation Accuracy ◽  
Developed Countries ◽  
Genotype Imputation ◽  
Selection Strategy ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Single Nucleotide Polymorphism Selection ◽  
The Mean

Abstract A major obstacle in applying genomic selection (GS) to uniquely adapted local breeds in less-developed countries has been the cost of genotyping at high densities of single nucleotide polymorphisms (SNP). Cost reduction can be achieved by imputing genotypes from lower to higher densities. Locally adapted breeds tend to be admixed and exhibit a high degree of genomic heterogeneity thus necessitating the optimization of SNP selection for downstream imputation. The aim of this study was to quantify the achievable imputation accuracy for a sample of 1,135 South African (SA) Drakensberger using several custom-derived lower-density panels varying in both SNP density and how the SNP were selected. From a pool of 120,608 genotyped SNP, subsets of SNP were chosen 1) at random, 2) with even genomic dispersion, 3) by maximizing the mean minor allele frequency (MAF), 4) using a combined score of MAF and linkage disequilibrium (LD), 5) using a partitioning-around-medoids (PAM) algorithm, and finally 6) using a hierarchical LD-based clustering algorithm. Imputation accuracy to higher density improved as SNP density increased; animal-wise imputation accuracy defined as the within-animal correlation between the imputed and actual alleles ranged from 0.625 to 0.990 when 2,500 randomly selected SNP were chosen versus a range of 0.918 to 0.999 when 50,000 randomly selected SNP were used. At a panel density of 10,000 SNP, the mean (standard deviation) animal-wise allele concordance rate was 0.976 (0.018) versus 0.982 (0.014) when the worst (i.e., random) as opposed to the best (i.e., combination of MAF and LD) SNP selection strategy was employed. A difference of 0.071 units was observed between the mean correlation-based accuracy of imputed SNP categorized as low (0.01<MAF≤0.1) versus high MAF (0.4<MAF≤0.5). Greater mean imputation accuracy was achieved for SNP located on autosomal extremes when these regions were populated with more SNP. The presented results suggested that genotype imputation can be a practical cost-saving strategy for indigenous breeds such as the South African Drakensberger. Based on the results, a genotyping panel consisting of approximately 10,000 SNP selected based on a combination of MAF and LD would suffice in achieving a less than 3% imputation error rate for a breed characterized by genomic admixture on the condition that these SNP are selected based on breed-specific selection criteria.

scholarly journals Comparison of Ensemble Machine Learning Methods for Soil Erosion Pin Measurements

2021 ◽  
Vol 10 (1) ◽  
pp. 42
Author(s):  
Kieu Anh Nguyen ◽  
Walter Chen ◽  
Bor-Shiun Lin ◽  
Uma Seeboonruang
Keyword(s):  
Machine Learning ◽  
Soil Erosion ◽  
Ensemble Methods ◽  
Machine Learning Algorithms ◽  
Multivariate Adaptive Regression Splines ◽  
Gradient Boosting ◽  
Support Vector ◽  
Ensemble Machine Learning ◽  
Boosting Method ◽  
Bagging Method

Although machine learning has been extensively used in various fields, it has only recently been applied to soil erosion pin modeling. To improve upon previous methods of quantifying soil erosion based on erosion pin measurements, this study explored the possible application of ensemble machine learning algorithms to the Shihmen Reservoir watershed in northern Taiwan. Three categories of ensemble methods were considered in this study: (a) Bagging, (b) boosting, and (c) stacking. The bagging method in this study refers to bagged multivariate adaptive regression splines (bagged MARS) and random forest (RF), and the boosting method includes Cubist and gradient boosting machine (GBM). Finally, the stacking method is an ensemble method that uses a meta-model to combine the predictions of base models. This study used RF and GBM as the meta-models, decision tree, linear regression, artificial neural network, and support vector machine as the base models. The dataset used in this study was sampled using stratified random sampling to achieve a 70/30 split for the training and test data, and the process was repeated three times. The performance of six ensemble methods in three categories was analyzed based on the average of three attempts. It was found that GBM performed the best among the ensemble models with the lowest root-mean-square error (RMSE = 1.72 mm/year), the highest Nash-Sutcliffe efficiency (NSE = 0.54), and the highest index of agreement (d = 0.81). This result was confirmed by the spatial comparison of the absolute differences (errors) between model predictions and observations using GBM and RF in the study area. In summary, the results show that as a group, the bagging method and the boosting method performed equally well, and the stacking method was third for the erosion pin dataset considered in this study.

scholarly journals Machine learning identifies two autophagy-related genes as markers of recurrence in colorectal cancer

2020 ◽  
Vol 48 (10) ◽  
pp. 030006052095880
Author(s):  
Jianping Wu ◽  
Sulai Liu ◽  
Xiaoming Chen ◽  
Hongfei Xu ◽  
Yaoping Tang
Keyword(s):  
Colorectal Cancer ◽  
Machine Learning ◽  
Protein Interactions ◽  
Early Stage ◽  
Predictive Ability ◽  
Improve Patient Care ◽  
Active Role ◽  
Risk Groups ◽  
Recurrence Risk ◽  
Machine Learning Algorithms

Objective Colorectal cancer (CRC) is the most common cancer worldwide. Patient outcomes following recurrence of CRC are very poor. Therefore, identifying the risk of CRC recurrence at an early stage would improve patient care. Accumulating evidence shows that autophagy plays an active role in tumorigenesis, recurrence, and metastasis. Methods We used machine learning algorithms and two regression models, univariable Cox proportion and least absolute shrinkage and selection operator (LASSO), to identify 26 autophagy-related genes (ARGs) related to CRC recurrence. Results By functional annotation, these ARGs were shown to be enriched in necroptosis and apoptosis pathways. Protein–protein interactions identified SQSTM1, CASP8, HSP80AB1, FADD, and MAPK9 as core genes in CRC autophagy. Of 26 ARGs, BAX and PARP1 were regarded as having the most significant predictive ability of CRC recurrence, with prediction accuracy of 71.1%. Conclusion These results shed light on prediction of CRC recurrence by ARGs. Stratification of patients into recurrence risk groups by testing ARGs would be a valuable tool for early detection of CRC recurrence.

Swarm Intelligence Optimization: An Exploration and Application of Machine Learning Technology

2021 ◽  
Vol 30 (1) ◽  
pp. 460-469
Author(s):  
Yinying Cai ◽  
Amit Sharma
Keyword(s):  
Machine Learning ◽  
Swarm Intelligence ◽  
Research Result ◽  
Machine Learning Algorithms ◽  
Learning Technology ◽  
Data Set ◽  
Rice Pests ◽  
Machine Leaning ◽  
Smart Agriculture ◽  
Swarm Intelligence Optimization

Abstract In the agriculture development and growth, the efficient machinery and equipment plays an important role. Various research studies are involved in the implementation of the research and patents to aid the smart agriculture and authors and reviewers that machine leaning technologies are providing the best support for this growth. To explore machine learning technology and machine learning algorithms, the most of the applications are studied based on the swarm intelligence optimization. An optimized V3CFOA-RF model is built through V3CFOA. The algorithm is tested in the data set collected concerning rice pests, later analyzed and compared in detail with other existing algorithms. The research result shows that the model and algorithm proposed are not only more accurate in recognition and prediction, but also solve the time lagging problem to a degree. The model and algorithm helped realize a higher accuracy in crop pest prediction, which ensures a more stable and higher output of rice. Thus they can be employed as an important decision-making instrument in the agricultural production sector.

scholarly journals Birds Sound Classification Based on Machine Learning Algorithms

2021 ◽  
pp. 1-11
Author(s):  
Aska E. Mehyadin ◽  
Adnan Mohsin Abdulazeez ◽  
Dathar Abas Hasan ◽  
Jwan N. Saeed
Keyword(s):  
Machine Learning ◽  
Noise Suppression ◽  
Bird Species ◽  
Machine Learning Algorithms ◽  
Data Sets ◽  
Learning Technology ◽  
Species Classification ◽  
Data Set ◽  
Sound Classification ◽  
Mel Frequency Cepstral Coefficient

The bird classifier is a system that is equipped with an area machine learning technology and uses a machine learning method to store and classify bird calls. Bird species can be known by recording only the sound of the bird, which will make it easier for the system to manage. The system also provides species classification resources to allow automated species detection from observations that can teach a machine how to recognize whether or classify the species. Non-undesirable noises are filtered out of and sorted into data sets, where each sound is run via a noise suppression filter and a separate classification procedure so that the most useful data set can be easily processed. Mel-frequency cepstral coefficient (MFCC) is used and tested through different algorithms, namely Naïve Bayes, J4.8 and Multilayer perceptron (MLP), to classify bird species. J4.8 has the highest accuracy (78.40%) and is the best. Accuracy and elapsed time are (39.4 seconds).

scholarly journals An assembly-free method of phylogeny reconstruction using short-read sequences from pooled samples without barcodes

2021 ◽  
Author(s):  
Thomas K. F. Wong ◽  
Teng Li ◽  
Louis Ranjard ◽  
Steven Wu ◽  
Jeet Sukumaran ◽  
...  
Keyword(s):  
Dna Sequences ◽  
Dna Barcode ◽  
Real Data ◽  
Reference Sequence ◽  
Nucleotide Polymorphisms ◽  
Data Set ◽  
Single Nucleotide ◽  
Short Read ◽  
Pooled Samples ◽  
Haplotype Information

AbstractA current strategy for obtaining haplotype information from several individuals involves short-read sequencing of pooled amplicons, where fragments from each individual is identified by a unique DNA barcode. In this paper, we report a new method to recover the phylogeny of haplotypes from short-read sequences obtained using pooled amplicons from a mixture of individuals, without barcoding. The method, AFPhyloMix, accepts an alignment of the mixture of reads against a reference sequence, obtains the single-nucleotide-polymorphisms (SNP) patterns along the alignment, and constructs the phylogenetic tree according to the SNP patterns. AFPhyloMix adopts a Bayesian model of inference to estimates the phylogeny of the haplotypes and their relative frequencies, given that the number of haplotypes is known. In our simulations, AFPhyloMix achieved at least 80% accuracy at recovering the phylogenies and frequencies of the constituent haplotypes, for mixtures with up to 15 haplotypes. AFPhyloMix also worked well on a real data set of kangaroo mitochondrial DNA sequences.

scholarly journals Genome-wide analyses reveal clustering in Cannabis cultivars: the ancient domestication trilogy of a panacea

2015 ◽  
Author(s):  
Philippe Henry
Keyword(s):  
Genetic Variation ◽  
Genetic Structure ◽  
Open Access ◽  
Nucleotide Polymorphisms ◽  
Data Set ◽  
Single Nucleotide ◽  
Genome Wide ◽  
Access Data ◽  
Diagnostic Snps ◽  
Shed Light

In the present research, I used an open access data set (Medicinal Genomics) consisting of nearly 200'000 genome-wide single nucleotide polymorphisms (SNPs) typed in 28 cannabis accessions to shed light on the plant's underlying genetic structure. Genome-wide loadings were used to sequentially cull less informative markers. The process involved reducing the number of SNPs to 100K, 10K, 1K, 100 until I identified a set of 42 highly informative SNPs that I present here. The two first principal components, encompass over 3/4 of the genetic variation present in the dataset (PCA1 = 48.6%, PCA2= 26.3%). This set of diagnostic SNPs is then used to identify clusters into which cannabis accession segregate. I identified three clear and consistent clusters; reflective of the ancient domestication trilogy of the genus Cannabis.

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