The Hitchhikers Guide To Whole Exome Analysis

A handbook on computational analysis of whole exome sequence data

This book focuses on an eminent technology called next generation sequencing (NGS) which has entirely changed the procedure of examining organisms and will have a great impact on biomedical research and disease diagnosis. Numerous computational challenges have been brought on by the rapid advancement of large-scale next-generation sequencing (NGS) technologies and their application. The term ""biomedical imaging"" refers to the use of a variety of imaging techniques (such as X-rays, CT scans, MRIs, ultrasounds, etc.) to get images of the interior organs of a human being for potential diagnostic, treatment planning, follow-up, and surgical purposes. In these circumstances, deep learning, a new learning method that uses multi-layered artificial neural networks (ANNs) for unsupervised, supervised, and semi-supervised learning, has attracted a lot of interest for applications to NGS and imaging, even when both of these data are used for the same group of patients. The three main research phenomena in biomedical research are disease classification, feature dimension reduction, and heterogeneity. AI approaches are used by clinical researchers to efficiently analyse extremely complicated biomedical datasets (e.g., multi-omic datasets. With the use of NGS data and biomedical imaging of various human organs, researchers may predict diseases using a variety of deep learning models. Unparalleled prospects to improve the work of radiologists, clinicians, and biomedical researchers, speed up disease detection and diagnosis, reduce treatment costs, and improve public health are presented by using deep learning models in disease prediction using NGS and biomedical imaging. This book influences a variety of critical disease data and medical images.

This textbook takes you on a journey to the basic concepts of cancer biology. It combines developmental, evolutionary and cell biology perspectives, to then wrap-up with an integrated clinical approach. The book starts with an introductory chapter, looking at cancer in a nut shell. The subsequent chapters are detailed and the idea of cancer as a mass of somatic cells undergoing a micro-evolutionary Darwinian process is explored. Further, the main Hanahan and Weinberg “Hallmarks of Cancer” are revisited. In most chapters, the fundamental experiments that led to key concepts, connecting basic biology and biomedicine are highlighted. In the book’s closing section all of these concepts are integrated in clinical studies, where molecular diagnosis as well as the various classical and modern therapeutic strategies are addressed. The book is written in an easy-to-read language, like a one-on-one conversation between the writer and the reader, without compromising the scientific accuracy. Therefore, this book is suited not only for advanced undergraduates and master students but also for patients or curious lay people looking for a further understanding of this shattering disease

Foraging is fundamental to animal survival and reproduction, yet it is much more than a simple matter of finding food; it is a biological imperative. Animals must find and consume resources to succeed, and they make extraordinary efforts to do so. For instance, pythons rarely eat, but when they do, their meals are large—as much as 60 percent larger than their own bodies. The snake’s digestive system is normally dormant, but during digestion metabolic rates can increase fortyfold. A python digesting quietly on the forest floor has the metabolic rate of thoroughbred in a dead heat. This and related foraging processes have broad applications in ecology, cognitive science, anthropology, and conservation biology—and they can be further extrapolated in economics, neurobiology, and computer science. Foraging is the first comprehensive review of the topic in more than twenty years. A monumental undertaking, this volume brings together twenty-two experts from throughout the field to offer the latest on the mechanics of foraging, modern foraging theory, and foraging ecology. The fourteen essays cover all the relevant issues, including cognition, individual behavior, caching behavior, parental behavior, antipredator behavior, social behavior, population and community ecology, herbivory, and conservation. Considering a wide range of taxa, from birds to mammals to amphibians, Foraging will be the definitive guide to the field.

The change process is described in this text examining the historical, social and economic influences on educational policy reform. The three themes covered in this volume are: politics and educational reform; politics into policy and policy implementation; and educational reform phenomena.

Tumor progression is driven by mutations that confer growth advantages to different subpopulations of cancer cells. As a tumor grows, these subpopulations expand, accumulate new mutations, and are subjected to selective pressures from the environment, including anticancer interventions. This process, termed clonal evolution, can lead to the emergence of therapy-resistant tumors and poses a major challenge for cancer eradication efforts. Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Medicine examines cancer progression as an evolutionary process and explores how this way of looking at cancer may lead to more effective strategies for managing and treating it. The contributors review efforts to characterize the subclonal architecture and dynamics of tumors, understand the roles of chromosomal instability, driver mutations, and mutation order, and determine how cancer cells respond to selective pressures imposed by anticancer agents, immune cells, and other components of the tumor microenvironment. They compare cancer evolution to organismal evolution and describe how ecological theories and mathematical models are being used to understand the complex dynamics between a tumor and its microenvironment during cancer progression. The authors also discuss improved methods to monitor tumor evolution (e.g., liquid biopsies) and the development of more effective strategies for managing and treating cancers (e.g., immunotherapies). This volume will therefore serve as a vital reference for all cancer biologists as well as anyone seeking to improve clinical outcomes for patients with cancer.

This volume develops results on continuous time branching processes and applies them to study rate of tumor growth, extending classic work on the Luria-Delbruck distribution. As a consequence, the author calculate the probability that mutations that confer resistance to treatment are present at detection and quantify the extent of tumor heterogeneity. As applications, the author evaluate ovarian cancer screening strategies and give rigorous proofs for results of Heano and Michor concerning tumor metastasis. These notes should be accessible to students who are familiar with Poisson processes and continuous time Markov chains. Richard Durrett is a mathematics professor at Duke University, USA. He is the author of 8 books, over 200 journal articles, and has supervised more than 40 Ph.D students. Most of his current research concerns the applications of probability to biology: ecology, genetics and most recently cancer.

Recent studies in human genetics and in silico analyses have revealed that a number of genes are head-head orientated with other genes or non-coding RNAs. The expression of regulatory element-containing 5’-upstream regions of gene pairs are referred to as bi-directional promoters and are thought to have a key role in biological regulatory mechanisms. For example, tumor suppressor protein-encoding TP53 and BRCA1 genes are head-head bound with WRAP53 and NBR2, respectively. DNA-repair factor-encoding ATM and PRKDC (DNA-PKcs) genes have bidirectional partner NPAT and MCM4, respectively. Surveillance of the human DNA database has revealed that the numbers of DNA repair/mitochondrial function/immune response-associated genes are bound with other genes that are transcribed to opposite direction. The observations may encourage us to investigate in the molecular mechanisms how DNA repair/mitochondrial function/immune response-associated genes are regulated by bidirectional promoters. Not only protein-coding genes, but also quite a few ncRNAs, which play important roles in various cellular events, are transcribed under the regulation of the bidirectional promoters. More importantly, we know that dysregulation in the promoter activity and transcription initiation of genes might cause human diseases. Provides an overview of the process of transcription Explains why there so many bidirectional promoters present in human genomes Covers how the diverse biological functions of (non-coding RNAs) ncRNAs are controlled

The book aims to provide an introduction to mathematical models that describe the dynamics of tumor growth and the evolution of tumor cells. It can be used as a textbook for advanced undergraduate or graduate courses, and also serves as a reference book for researchers. The book has a strong evolutionary component and reflects the viewpoint that cancer can be understood rationally through a combination of mathematical and biological tools. It can be used both by mathematicians and biologists. Mathematically, the book starts with relatively simple ordinary differential equation models, and subsequently explores more complex stochastic and spatial models. Biologically, the book starts with explorations of the basic dynamics of tumor growth, including competitive interactions among cells, and subsequently moves on to the evolutionary dynamics of cancer cells, including scenarios of cancer initiation, progression, and treatment. The book finishes with a discussion of advanced topics, which describe how some of the mathematical concepts can be used to gain insights into a variety of questions, such as epigenetics, telomeres, gene therapy, and social interactions of cancer cells.

Recent dramatic advances in diagnosis, as well as medical and surgical treatment, mean that you can offer your glaucoma patients more timely and effective interventions. This brand-new clinical reference delivers the comprehensive, expert guidance you need to make optimal use of these new approaches.online, in print, and on video on DVD Get in-depth guidance on all aspects of adult and pediatric glaucoma with one volume devoted to diagnosis and medical treatment, and another that focuses on surgical techniques.