Download or read book Advanced Interpretable Machine Learning Methods for Clinical NGS Big Data of Complex Hereditary Diseases 2nd Edition written by Yudong Cai and published by Frontiers Media SA. This book was released on 2021-07-01 with total page 219 pages. Available in PDF, EPUB and Kindle. Book excerpt: Publisher’s note: This is a 2nd edition due to an article retraction

Download or read book Advanced interpretable machine learning methods for clinical NGS big data of complex hereditary diseases volume II written by Yudong Cai and published by Frontiers Media SA. This book was released on 2023-02-13 with total page 194 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Advanced Interpretable Machine Learning Methods for Clinical NGS Big Data of Complex Hereditary Diseases written by Yudong Cai and published by . This book was released on 2020 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.

Download or read book Machine Learning Advanced Dynamic Omics Data Analysis for Precision Medicine written by Tao Zeng and published by . This book was released on 2020 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Precision medicine is being developed as a preventative, diagnostic and treatment tool to combat complex human diseases in a personalized manner. By utilizing high-throughput technologies, dynamic 'omics data including genetics, epi-genetics and even meta-genomics has produced temporal-spatial big biological datasets which can be associated with individual genotypes underlying pathogen progressive phenotypes. It is therefore necessary to investigate how to integrate these multi-scale 'omics datasets to distinguish the novel individual-specific disease causes from conventional cohort-common disease causes. Currently, machine learning plays an important role in biological and biomedical research, especially in the analysis of big 'omics data. However, in contrast to traditional big social data, 'omics datasets are currently always "small-sample-high-dimension", which causes overwhelming application problems and also introduces new challenges: (1) Big 'omics datasets can be extremely unbalanced, due to the difficulty of obtaining enough positive samples of such rare mutations or rare diseases; (2) A large number of machine learning models are "black box," which is enough to apply in social applications. However, in biological or biomedical fields, knowledge of the molecular mechanisms underlying any disease or biological study is necessary to deepen our understanding; (3) The genotype-phenotype association is a "white clue" captured in conventional big data studies. But identification of "causality" rather than association would be more helpful for physicians or biologists, as this can be used to determine an experimental target as the subject of future research. Therefore, to simultaneously improve the phenotype discrimination and genotype interpretability for complex diseases, it is necessary: To design and implement new machine learning technologies to integrate prior-knowledge with new 'omics datasets to provide transferable learning methods by combining multiple sources of data; To develop new network-based theories and methods to balance the trade-off between accuracy and interpretability of machine learning in biomedical and biological domains; To enhance the causality inference on "small-sample high dimension" data to capture the personalized causal relationship.

Download or read book Big Data in Omics and Imaging written by Momiao Xiong and published by CRC Press. This book was released on 2018-06-14 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: Big Data in Omics and Imaging: Integrated Analysis and Causal Inference addresses the recent development of integrated genomic, epigenomic and imaging data analysis and causal inference in big data era. Despite significant progress in dissecting the genetic architecture of complex diseases by genome-wide association studies (GWAS), genome-wide expression studies (GWES), and epigenome-wide association studies (EWAS), the overall contribution of the new identified genetic variants is small and a large fraction of genetic variants is still hidden. Understanding the etiology and causal chain of mechanism underlying complex diseases remains elusive. It is time to bring big data, machine learning and causal revolution to developing a new generation of genetic analysis for shifting the current paradigm of genetic analysis from shallow association analysis to deep causal inference and from genetic analysis alone to integrated omics and imaging data analysis for unraveling the mechanism of complex diseases. FEATURES Provides a natural extension and companion volume to Big Data in Omic and Imaging: Association Analysis, but can be read independently. Introduce causal inference theory to genomic, epigenomic and imaging data analysis Develop novel statistics for genome-wide causation studies and epigenome-wide causation studies. Bridge the gap between the traditional association analysis and modern causation analysis Use combinatorial optimization methods and various causal models as a general framework for inferring multilevel omic and image causal networks Present statistical methods and computational algorithms for searching causal paths from genetic variant to disease Develop causal machine learning methods integrating causal inference and machine learning Develop statistics for testing significant difference in directed edge, path, and graphs, and for assessing causal relationships between two networks The book is designed for graduate students and researchers in genomics, epigenomics, medical image, bioinformatics, and data science. Topics covered are: mathematical formulation of causal inference, information geometry for causal inference, topology group and Haar measure, additive noise models, distance correlation, multivariate causal inference and causal networks, dynamic causal networks, multivariate and functional structural equation models, mixed structural equation models, causal inference with confounders, integer programming, deep learning and differential equations for wearable computing, genetic analysis of function-valued traits, RNA-seq data analysis, causal networks for genetic methylation analysis, gene expression and methylation deconvolution, cell –specific causal networks, deep learning for image segmentation and image analysis, imaging and genomic data analysis, integrated multilevel causal genomic, epigenomic and imaging data analysis.

Download or read book Biologically Interpretable Machine Learning Methods to Understand Gene Regulation for Disease Phenotypes written by Ting Jin and published by . This book was released on 2023 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gene expression and regulation is a key molecular mechanism driving the development of human diseases, particularly at the cell type level, but it remains elusive. For example in many brain diseases, such as Alzheimer's disease (AD), understanding how cell-type gene expression and regulation change across multiple stages of AD progression is still challenging. Moreover, interindividual variability of gene expression and regulation is a known characteristic of the human brain and brain diseases. However, it is still unclear how interindividual variability affects personalized gene regulation in brain diseases including AD, thereby contributing to their heterogeneity. Recent technological advances have enabled the detection of gene regulation activities through multi-omics (i.e., genomics, transcriptomics, epigenomics, proteomics). In particular, emerging single-cell sequencing technologies (e.g., scRNA-seq, scATAC-seq) allow us to study functional genomics and gene regulation at the cell-type level. Moreover, these multi-omics data of populations (e.g., human individuals) provide a unique opportunity to study the underlying regulatory mechanisms occurring in brain disease progression and clinical phenotypes. For instance, PsychAD is a large project generating single-cell multi-omics data including many neuronal and glial cell types, aiming to understand the molecular mechanisms of neuropsychiatric symptoms of multiple brain diseases (e.g., AD, SCZ, ASD, Bipolar) from over 1,000 individuals. However, analyzing and integrating large-scale multi-omics data at the population level, as well as understanding the mechanisms of gene regulation, also remains a challenge. Machine learning is a powerful and emerging tool to decode the unique complexities and heterogeneity of human diseases. For instance, Beebe-Wang, Nicosia, et al. developed MD-AD, a multi-task neural network model to predict various disease phenotypes in AD patients using RNA-seq. Additionally, with advancements in graph neural networks, which possess enhanced capabilities to represent sophisticated gene network structures like gene regulation networks that control gene expression. Efforts have also been made to capture the gene regulation heterogeneity of brain diseases. For instance, Kim SY has applied graph convolutional networks to offer personalized diagnostic insights through population graphs that correspond with disease progression. However, many existing machine learning methods are often limited to constructing accurate models for disease phenotype prediction and frequently lack biological interpretability or personalized insights, especially in gene regulation. Therefore, to address these challenges, my Ph.D. works have developed three machine-learning methods designed to decode the gene regulation mechanisms of human diseases. First, in this dissertation, I will present scGRNom, a computational pipeline that integrates multi-omic data to construct cell-type gene regulatory networks (GRNs) linking non-coding regulatory elements. Next, I will introduce i-BrainMap an interpretable knowledge-guided graph neural network model to prioritize personalized cell type disease genes, regulatory linkages, and modules. Thirdly, I introduce ECMaker, a semi-restricted Boltzmann machine (semi-RBM) method for identifying gene networks to predict diseases and clinical phenotypes. Overall, all our interpretable machine learning models improve phenotype prediction, prioritize key genes and networks associated with disease phenotypes, and are further aimed at enhancing our understanding of gene regulatory mechanisms driving disease progression and clinical phenotypes.

Download or read book Deconstructing Complex Diseases written by Priyasha Mehta and published by . This book was released on 2019 with total page 70 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in data science and technology promise to help clinicians diagnose and treat certain conditions. But there are other complex and poorly characterized illnesses for which the drivers and dependent variables are not understood well enough to take full advantage of the copious patient data that may exist. For these diseases new techniques need to be explored to gain better understanding of the nature of the disease, its subtypes, cause, consequence, and presentation. Modern genetics have shown that these diseases often have multiple subtypes, as well as multiple phenotypes as indicated by the new laboratory data. Examples of such diseases include common and important illness such as Type 2 diabetes (T2D) - affecting approximately 30 million Americans, Crohn's Disease - 1 million USA suffers, epilepsy - 3.4 million Americans, and migraines - another 3.2 million in the United States. Our research explores how machine learning (ML) can be applied to these less well understood complex diseases to improve clinical translation and management. This thesis will discuss how unsupervised machine learning techniques can be used for complex phenotype clustering to identify sub-types of T2D for better clinical management and treatment. T2D is a complex heterogenous disease affecting the world's population at rapidly increasing rates. While clinicians now better understand the heterogeneity of the disease, T2D treatment strategies still remain largely based on populations rather than on a specific patient's subtype. This thesis explores the concept of using data analytics and ML to identify sub-types of T2D as the first step in moving towards precision medicine & treatments. This thesis includes (a) characterization of T2D as a heterogenous disease, (b) existing research attempts to dissect the disease into sub-types based on phenotypes and gene expressions, and their limitations, (c) phenotype clustering analysis on T2D patients using unsupervised machine learning techniques and MIMIC III database, and (d) analysis of the clusters/subgroups in different ways to understand their clinical significance. With multiple iterations of the clustering experiment, this thesis, (a) provides a good test of concept for sub-classification of T2D patients using unsupervised machine learning techniques such as, clustering and dimension reduction, (b) establishes a data pipeline and clustering model framework to be applied to richer datasets, (c) suggests various experiment design options for further analysis, and (d) establishes a direction for future work including advanced modelling techniques and predictive analytics for complex diseases.

Download or read book Developing Machine Learning and Statistical Methods for the Analysis of Genetics and Genomics written by Jiajin Li and published by . This book was released on 2021 with total page 154 pages. Available in PDF, EPUB and Kindle. Book excerpt: With the development of next-generation sequencing technologies, we can detect numerous genetic variants associated with many diseases or complex traits over the past decades. Genome-wide association studies (GWAS) have been one of the most effective methods to identify those variants. It discovers disease-associated variants by comparing the genetic information between controls and cases. This approach is simple and effective and has been used by many studies. Before performing GWAS, we need to detect the genetic variants of the sample population. A subset of these variants, however, may have poor sequencing quality due to limitations in NGS or variant callers. In genetic studies that analyze a large number of sequenced individuals, it is critical to detect and remove those variants with poor quality as they may cause spurious findings. Here, I will present ForestQC, an efficient statistical tool for performing quality control on variants identified from NGS data by combining a traditional filtering approach and a machine learning approach, which outperforms widely used methods by considerably improving the quality of variants to be included in the analysis. Once this association is identified, the next step is to understand the genetic mechanism of rare variants on how the variants influence diseases, especially whether or how they regulate gene expression as they may affect diseases through gene regulation. However, it is challenging to identify the regulatory effects of rare variants because it often requires large sample sizes and the existing statistical approaches are not optimized for it. To improve statistical power, I will introduce a new approach, LRT-q, based on a likelihood ratio test that combines effects of multiple rare variants in a nonlinear manner and has higher power than previous approaches. I apply LRT-q to the GTEx dataset and find many novel biological insights. Recent studies have shown that omics data can be used for automatic disease diagnosis with machine learning algorithms. I will introduce an accurate and automated machine learning pipeline for the diagnosis of atopic dermatitis (AD) based on transcriptome and microbiota data. I will demonstrate that this classifier can accurately differentiate subjects with AD and healthy individuals. It also identifies a set of genes and microorganisms that are predictive for AD. I will show that they are directly or indirectly associated with AD.

Download or read book Big Data Analytics in Bioinformatics and Healthcare written by Wang, Baoying and published by IGI Global. This book was released on 2014-10-31 with total page 552 pages. Available in PDF, EPUB and Kindle. Book excerpt: As technology evolves and electronic data becomes more complex, digital medical record management and analysis becomes a challenge. In order to discover patterns and make relevant predictions based on large data sets, researchers and medical professionals must find new methods to analyze and extract relevant health information. Big Data Analytics in Bioinformatics and Healthcare merges the fields of biology, technology, and medicine in order to present a comprehensive study on the emerging information processing applications necessary in the field of electronic medical record management. Complete with interdisciplinary research resources, this publication is an essential reference source for researchers, practitioners, and students interested in the fields of biological computation, database management, and health information technology, with a special focus on the methodologies and tools to manage massive and complex electronic information.

Download or read book Decision Support Framework for Cardiovascular Disease Prediction Using Machine Learning written by Nitten Singh Rajliwall and published by . This book was released on 2022 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical decision making is an important and frequent task, which physicians make in their daily clinical practice. Conventionally, physicians adopt a cognitive predictive modelling process (i.e., knowledge and experience learnt from experience, their research, related literature, patient cases, etc.) for anticipating or ascertaining health problems based on clinical risk factors, that deem to be the most salient. However, with the inundation of health data, from EHR system, wearable devices, and other systems for monitoring vital parameters, it has become difficult for physicians to make sense of this massive data, particularly, due to confounding and complex characteristics of chronic diseases, and there is a need for more effective clinical prediction approaches to address these challenges. Given the paramount importance of predictive models for managing chronic disease, cardiovascular diseases in particular, this thesis proposes a novel computational predictive modelling framework, based on innovative machine learning and data science approaches that can aid in clinical decision support. The focus of the proposed predictive modelling framework is on interpretable machine learning approaches that consist of interpretable models based on shallow machine learning techniques, such as those based on linear regression and decision trees and their variants, and model-agnostic approaches based on neural networks and deep learning methods but enhanced with appropriate feature engineering and post-hoc explainability. These approaches allow disease prediction models to be deployed in complex clinical settings, including under remote, extreme, and low-resource environments, where data could be small, big, or massive and has several inadequacies in terms of data quality, noise, or missing data. The availability of interpretable models, and model-agnostic approaches enhanced with explainable aspects are important for physicians and medical professionals, as it will increase transparency, trust and confidence in the decision support provided by computer based algorithmic models. This thesis aims to address the research gap that exists in the current ML/AI based disease detection models, particularly, the lack of robust, objective, explainable, interpretable and trustworthy inference available from the computer based decision support tools, with a majority of the performance metrics reported from computer based tools have been limited to quantitative measures such as accuracy, precision, recall, F-measure, AUC, ROC, without any detailed qualitative metrics, that provide insight into how the computer has arrived at a decision, and ability to explain the decision making logic, eliciting trust from the stakeholders using the system. This could be due to the problem that most of the current ML/AI tools were built using mathematically rigorous constructs, designed around black box approaches, which are hard to interpret and explain, and hence the decisions provided by them appear to be coming from a black box, offering little explanation on decision arrived. The research proposed in this thesis is aimed at the development of a breakthrough explainable predictive modelling framework, based on innovative ML/AI algorithms for building CVD disease detection models. The proposed computation framework provides an intelligent and interpretable holistic analytics platform with improved prediction accuracy, and improved interpretability and explainability. The proposed innovation and development can help drive the healthcare system to one that is more patient-centred, and trustworthy, with potential to be tailored for several diseases such as cancer, cardiovascular disease, asthma, traumatic brain injury, dementia, and diabetes. The outcomes of this research based on innovative findings can serve as an example - that the availability of better computer-based decision support tools, with novel computational strategies, which can address a patient's unique clinical/genetic characteristics, can result in better characterization of diseases and at the same time redefine therapeutic strategies. Some of the key contributions from this research include:• Novel disease detection models based on traditional shallow machine learning algorithms, particularly those based on decision trees and their variants. These algorithms have shown to be inherently interpretable and accurate white box models and can serve as the baseline for comparing with previous models proposed in the literature.• Innovative disease detection models based on model agnostic algorithms, such as deep learning networks, but augmented with appropriate pre- processing and post-processing stages to provide better interpretability and explainability and eventually make them an efficient white box model. For an objective comparison of the methods proposed in each of the above stages, several publicly available benchmark clinical datasets, including Cleveland dataset, NHANES dataset and Framingham Heart Study/CHS dataset were used for model building and experimental validation. Although Cardiovascular disease has been selected as the use case and disease under investigation, since it has led to an alarming increase in the burden of disease, almost at the epidemic levels, and is a major health concern in today's world, the findings from this research can lead to meaningful and significant impact towards improved self-management of chronic non-communicable diseases and make a significant contribution towards better public health management.

Download or read book Genomic Medicine written by Dhavendra Kumar and published by Oxford Monographs on Medical G. This book was released on 2014-10-15 with total page 853 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Download or read book Artificial Intelligence in Healthcare written by Adam Bohr and published by Academic Press. This book was released on 2020-06-21 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Artificial Intelligence (AI) in Healthcare is more than a comprehensive introduction to artificial intelligence as a tool in the generation and analysis of healthcare data. The book is split into two sections where the first section describes the current healthcare challenges and the rise of AI in this arena. The ten following chapters are written by specialists in each area, covering the whole healthcare ecosystem. First, the AI applications in drug design and drug development are presented followed by its applications in the field of cancer diagnostics, treatment and medical imaging. Subsequently, the application of AI in medical devices and surgery are covered as well as remote patient monitoring. Finally, the book dives into the topics of security, privacy, information sharing, health insurances and legal aspects of AI in healthcare. Highlights different data techniques in healthcare data analysis, including machine learning and data mining Illustrates different applications and challenges across the design, implementation and management of intelligent systems and healthcare data networks Includes applications and case studies across all areas of AI in healthcare data

Download or read book Machine Learning and Medical Imaging written by Guorong Wu and published by Academic Press. This book was released on 2016-08-11 with total page 512 pages. Available in PDF, EPUB and Kindle. Book excerpt: Machine Learning and Medical Imaging presents state-of- the-art machine learning methods in medical image analysis. It first summarizes cutting-edge machine learning algorithms in medical imaging, including not only classical probabilistic modeling and learning methods, but also recent breakthroughs in deep learning, sparse representation/coding, and big data hashing. In the second part leading research groups around the world present a wide spectrum of machine learning methods with application to different medical imaging modalities, clinical domains, and organs. The biomedical imaging modalities include ultrasound, magnetic resonance imaging (MRI), computed tomography (CT), histology, and microscopy images. The targeted organs span the lung, liver, brain, and prostate, while there is also a treatment of examining genetic associations. Machine Learning and Medical Imaging is an ideal reference for medical imaging researchers, industry scientists and engineers, advanced undergraduate and graduate students, and clinicians. Demonstrates the application of cutting-edge machine learning techniques to medical imaging problems Covers an array of medical imaging applications including computer assisted diagnosis, image guided radiation therapy, landmark detection, imaging genomics, and brain connectomics Features self-contained chapters with a thorough literature review Assesses the development of future machine learning techniques and the further application of existing techniques

Download or read book Applications of Machine Learning written by Prashant Johri and published by Springer Nature. This book was released on 2020-05-04 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers applications of machine learning in artificial intelligence. The specific topics covered include human language, heterogeneous and streaming data, unmanned systems, neural information processing, marketing and the social sciences, bioinformatics and robotics, etc. It also provides a broad range of techniques that can be successfully applied and adopted in different areas. Accordingly, the book offers an interesting and insightful read for scholars in the areas of computer vision, speech recognition, healthcare, business, marketing, and bioinformatics.

Download or read book Childhood Acute Lymphoblastic Leukemia written by Ajay Vora and published by Springer. This book was released on 2017-04-21 with total page 342 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive and up-to-date review of all aspects of childhood Acute Lymphoblastic Leukemia, from basic biology to supportive care. It offers new insights into the genetic pre-disposition to the condition and discusses how response to early therapy and its basic biology are utilized to develop new prognostic stratification systems and target therapy. Readers will learn about current treatment and outcomes, such as immunotherapy and targeted therapy approaches. Supportive care and management of the condition in resource poor countries are also discussed in detail. This is an indispensable guide for research and laboratory scientists, pediatric hematologists as well as specialist nurses involved in the care of childhood leukemia.

Download or read book Applying Big Data Analytics in Bioinformatics and Medicine written by Lytras, Miltiadis D. and published by IGI Global. This book was released on 2017-06-16 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Many aspects of modern life have become personalized, yet healthcare practices have been lagging behind in this trend. It is now becoming more common to use big data analysis to improve current healthcare and medicinal systems, and offer better health services to all citizens. Applying Big Data Analytics in Bioinformatics and Medicine is a comprehensive reference source that overviews the current state of medical treatments and systems and offers emerging solutions for a more personalized approach to the healthcare field. Featuring coverage on relevant topics that include smart data, proteomics, medical data storage, and drug design, this publication is an ideal resource for medical professionals, healthcare practitioners, academicians, and researchers interested in the latest trends and techniques in personalized medicine.

Download or read book Next Generation Sequencing Data Analysis written by Xinkun Wang and published by CRC Press. This book was released on 2016-04-06 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: A Practical Guide to the Highly Dynamic Area of Massively Parallel SequencingThe development of genome and transcriptome sequencing technologies has led to a paradigm shift in life science research and disease diagnosis and prevention. Scientists are now able to see how human diseases and phenotypic changes are connected to DNA mutation, polymorphi