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

Can k-NN imputation improve the performance of C4.5 with small software project data sets? A comparative evaluation

Missing data is a widespread problem that can affect the ability to use data to construct effective prediction systems. We investigate a common machine learning technique that can tolerate missing values, namely C4.5, to predict cost using six real world software project databases. We analyze the predictive performance after using the k-NN missing data imputation technique to see if it is better to tolerate missing data or to try to impute missing values and then apply the C4.5 algorithm. For the investigation, we simulated three missingness mechanisms, three missing data patterns, and five missing data percentages. We found that the k-NN imputation can improve the prediction accuracy of C4.5. At the same time, both C4.5 and k-NN are little affected by the missingness mechanism, but that the missing data pattern and the missing data percentage have a strong negative impact upon prediction (or imputation) accuracy particularly if the missing data percentage exceeds 40%

Autoencoder for clinical data analysis and classification : data imputation, dimensional reduction, and pattern recognition

Over the last decade, research has focused on machine learning and data mining to develop frameworks that can improve data analysis and output performance; to build accurate decision support systems that benefit from real-life datasets. This leads to the field of clinical data analysis, which has attracted a significant amount of interest in the computing, information systems, and medical fields. To create and develop models by machine learning algorithms, there is a need for a particular type of data for the existing algorithms to build an efficient model. Clinical datasets pose several issues that can affect the classification of the dataset: missing values, high dimensionality, and class imbalance. In order to build a framework for mining the data, it is necessary first to preprocess data, by eliminating patients’ records that have too many missing values, imputing missing values, addressing high dimensionality, and classifying the data for decision support.This thesis investigates a real clinical dataset to solve their challenges. Autoencoder is employed as a tool that can compress data mining methodology, by extracting features and classifying data in one model. The first step in data mining methodology is to impute missing values, so several imputation methods are analysed and employed. Then high dimensionality is demonstrated and used to discard irrelevant and redundant features, in order to improve prediction accuracy and reduce computational complexity. Class imbalance is manipulated to investigate the effect on feature selection algorithms and classification algorithms.The first stage of analysis is to investigate the role of the missing values. Results found that techniques based on class separation will outperform other techniques in predictive ability. The next stage is to investigate the high dimensionality and a class imbalance. However it was found a small set of features that can improve the classification performance, the balancing class does not affect the performance as much as imbalance class

Pharmacogenomics of drug efficacy in the interferon treatment of chronic hepatitis C using classification algorithms

Chronic hepatitis C (CHC) patients often stop pursuing interferon-alfa and ribavirin (IFN-alfa/RBV) treatment because of the high cost and associated adverse effects. It is highly desirable, both clinically and economically, to establish tools to distinguish responders from nonresponders and to predict possible outcomes of the IFN-alfa/RBV treatments. Single nucleotide polymorphisms (SNPs) can be used to understand the relationship between genetic inheritance and IFN-alfa/RBV therapeutic response. The aim in this study was to establish a predictive model based on a pharmacogenomic approach. Our study population comprised Taiwanese patients with CHC who were recruited from multiple sites in Taiwan. The genotyping data was generated in the high-throughput genomics lab of Vita Genomics, Inc. With the wrapper-based feature selection approach, we employed multilayer feedforward neural network (MFNN) and logistic regression as a basis for comparisons. Our data revealed that the MFNN models were superior to the logistic regression model. The MFNN approach provides an efficient way to develop a tool for distinguishing responders from nonresponders prior to treatments. Our preliminary results demonstrated that the MFNN algorithm is effective for deriving models for pharmacogenomics studies and for providing the link from clinical factors such as SNPs to the responsiveness of IFN-alfa/RBV in clinical association studies in pharmacogenomics