Machine Learning and Integrative Analysis of Biomedical Big Data.

Recent developments in high-throughput technologies have accelerated the accumulation of massive amounts of omics data from multiple sources: genome, epigenome, transcriptome, proteome, metabolome, etc. Traditionally, data from each source (e.g., genome) is analyzed in isolation using statistical and machine learning (ML) methods. Integrative analysis of multi-omics and clinical data is key to new biomedical discoveries and advancements in precision medicine. However, data integration poses new computational challenges as well as exacerbates the ones associated with single-omics studies. Specialized computational approaches are required to effectively and efficiently perform integrative analysis of biomedical data acquired from diverse modalities. In this review, we discuss state-of-the-art ML-based approaches for tackling five specific computational challenges associated with integrative analysis: curse of dimensionality, data heterogeneity, missing data, class imbalance and scalability issues

A cDNA Microarray Gene Expression Data Classifier for Clinical Diagnostics Based on Graph Theory

Despite great advances in discovering cancer molecular profiles, the proper application of microarray technology to routine clinical diagnostics is still a challenge. Current practices in the classification of microarrays' data show two main limitations: the reliability of the training data sets used to build the classifiers, and the classifiers' performances, especially when the sample to be classified does not belong to any of the available classes. In this case, state-of-the-art algorithms usually produce a high rate of false positives that, in real diagnostic applications, are unacceptable. To address this problem, this paper presents a new cDNA microarray data classification algorithm based on graph theory and is able to overcome most of the limitations of known classification methodologies. The classifier works by analyzing gene expression data organized in an innovative data structure based on graphs, where vertices correspond to genes and edges to gene expression relationships. To demonstrate the novelty of the proposed approach, the authors present an experimental performance comparison between the proposed classifier and several state-of-the-art classification algorithm

Multi-class cancer classification by total principal component regression (TPCR) using microarray gene expression data

DNA microarray technology provides a promising approach to the diagnosis and prognosis of tumors on a genome-wide scale by monitoring the expression levels of thousands of genes simultaneously. One problem arising from the use of microarray data is the difficulty to analyze the high-dimensional gene expression data, typically with thousands of variables (genes) and much fewer observations (samples), in which severe collinearity is often observed. This makes it difficult to apply directly the classical statistical methods to investigate microarray data. In this paper, total principal component regression (TPCR) was proposed to classify human tumors by extracting the latent variable structure underlying microarray data from the augmented subspace of both independent variables and dependent variables. One of the salient features of our method is that it takes into account not only the latent variable structure but also the errors in the microarray gene expression profiles (independent variables). The prediction performance of TPCR was evaluated by both leave-one-out and leave-half-out cross-validation using four well-known microarray datasets. The stabilities and reliabilities of the classification models were further assessed by re-randomization and permutation studies. A fast kernel algorithm was applied to decrease the computation time dramatically. (MATLAB source code is available upon request.

A systematic review of data quality issues in knowledge discovery tasks

Hay un gran crecimiento en el volumen de datos porque las organizaciones capturan permanentemente la cantidad colectiva de datos para lograr un mejor proceso de toma de decisiones. El desafío mas fundamental es la exploración de los grandes volúmenes de datos y la extracción de conocimiento útil para futuras acciones por medio de tareas para el descubrimiento del conocimiento; sin embargo, muchos datos presentan mala calidad. Presentamos una revisión sistemática de los asuntos de calidad de datos en las áreas del descubrimiento de conocimiento y un estudio de caso aplicado a la enfermedad agrícola conocida como la roya del café.Large volume of data is growing because the organizations are continuously capturing the collective amount of data for better decision-making process. The most fundamental challenge is to explore the large volumes of data and extract useful knowledge for future actions through knowledge discovery tasks, nevertheless many data has poor quality. We presented a systematic review of the data quality issues in knowledge discovery tasks and a case study applied to agricultural disease named coffee rust

Dealing with missing values in DNA microarray

Ph.DDOCTOR OF PHILOSOPH

Factor Analysis for Multiple Testing (FAMT): An R Package for Large-Scale Significance Testing under Dependence

The R package FAMT (factor analysis for multiple testing) provides a powerful method for large-scale significance testing under dependence. It is especially designed to select differentially expressed genes in microarray data when the correlation structure among gene expressions is strong. Indeed, this method reduces the negative impact of dependence on the multiple testing procedures by modeling the common information shared by all the variables using a factor analysis structure. New test statistics for general linear contrasts are deduced, taking advantage of the common factor structure to reduce correlation and consequently the variance of error rates. Thus, the FAMT method shows improvements with respect to most of the usual methods regarding the non discovery rate and the control of the false discovery rate (FDR). The steps of this procedure, each of them corresponding to R functions, are illustrated in this paper by two microarray data analyses. We first present how to import the gene ex- pression data, the covariates and gene annotations. The second step includes the choice of the optimal number of factors, the factor model fitting, and provides a list of selected genes according to a preset FDR control level. Finally, diagnostic plots are provided to help the user interpret the factors using available external information on either genes or arrays.

Study of Population Structure and Genetic Prediction of Buffalo from Different Provinces of Iran using Machine Learning Method

Considering breeding livestock programs to milk production and type traits based on existence two different ecotypes of Iranian’s buffalo, a study carried out to investigate the population structure of Iranian buffalo and validate its classification accuracy according to different ecotypes from Iran (Azerbaijan and North) using data SNP chip 90K by means Support vector Machine (SVM), Random Forest (RF) and Discriminant Analysis Principal Component (DAPC) methods. A total of 258 buffalo were sampled and genotyped. The results of admixture, multidimensional scaling (MDS), and DAPC showed a close relationship between the animals of different provinces. Two ecotypes indicated higher accuracy of 96% that the Area Under Curve (AUC) confirmed the obtained result of the SVM approach while the DAPC and RF approach demonstrated lower accuracy of 88% and 80 %, respectively. SVM method proved high accuracy compared with DAPC and RF methods and assigned animals to their herds with more accuracy. According to these results, buffaloes distributed in two different ecotypes are one breed, and therefore the same breeding program should be used in the future. The water buffalo ecotype of the northern provinces of Iran and Azerbaijan seem to belong to the same population