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| Author | : Ranajit Chakraborty |
| Publisher | : Newnes |
| Total Pages | : 614 |
| Release | : 2012-10-03 |
| Genre | : Computers |
| ISBN | : 0444518754 |
The field of statistics not only affects all areas of scientific activity, but also many other matters such as public policy. A series of handbooks is the only way of presenting the various aspects of statistical methodology, applications and developments. This volume deals with bioinformatics.
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 112 |
| Release | : 2012-03-06 |
| Genre | : Medical |
| ISBN | : 0309220343 |
The initial sequencing of the human genome, carried out by an international group of experts, took 13 years and $2.7 billion to complete. In the decade since that achievement, sequencing technology has evolved at such a rapid pace that today a consumer can have his or her entire genome sequenced by a single company in a matter of days for less than $10,000, though the addition of interpretation may extend this timeframe. Given the rapid technological advances, the potential effect on the lives of patients, and the increasing use of genomic information in clinical care, it is important to address how genomics data can be integrated into the clinical setting. Genetic tests are already used to assess the risk of breast and ovarian cancers, to diagnose recessive diseases such as cystic fibrosis, to determine drug dosages based on individual patient metabolism, and to identify therapeutic options for treating lung and breast tumors, melanoma, and leukemia. With these issues in mind and considering the potential impact that genomics information can have on the prevention, diagnosis, and treatment of disease, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop on July 19, 2011, to highlight and identify the challenges and opportunities in integrating large-scale genomic information into clinical practice. Integrating Large-Scale Genomic Information into Clinical Practice summarizes the speaker presentations and the discussions that followed them. This report focuses on several key topics, including the analysis, interpretation, and delivery of genomic information plus workforce, ethical, and legal issues.
| Author | : Tore Samuelsson |
| Publisher | : Garland Science |
| Total Pages | : 543 |
| Release | : 2019-02-07 |
| Genre | : Medical |
| ISBN | : 042966429X |
The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders. The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome. Key selling features: Molecular sequence perspective, explaining the relationship between DNA sequence motifs and biological function Aids in understanding the functional impact of mutations and genetic variants Material presented at basic level, making it accessible to students without previous studies of genetics and molecular biology Richly illustrated with questions provided to each chapter
| Author | : Christophe Lambert |
| Publisher | : Academic Press |
| Total Pages | : 314 |
| Release | : 2018-08-02 |
| Genre | : Medical |
| ISBN | : 0128134313 |
Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field. Provides an overview of the most commonly used electronic tools to translate genomic information Brings an update on the existing human genomic databases that directly impact genome interpretation Summarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine
| Author | : Michael R. Barnes |
| Publisher | : John Wiley & Sons |
| Total Pages | : 576 |
| Release | : 2007-03-13 |
| Genre | : Science |
| ISBN | : 0470059176 |
Praise from the reviews: "Without reservation, I endorse this text as the best resource I've encountered that neatly introduces and summarizes many points I've learned through years of experience. The gems of truth found in this book will serve well those who wish to apply bioinformatics in their daily work, as well as help them advise others in this capacity." CIRCGENETICS "This book may really help to get geneticists and bioinformaticians on 'speaking-terms'... contains some essential reading for almost any person working in the field of molecular genetics." EUROPEAN JOURNAL OF HUMAN GENETICS "... an excellent resource... this book should ensure that any researcher's skill base is maintained." GENETICAL RESEARCH “... one of the best available and most accessible texts on bioinformatics and genetics in the postgenome age... The writing is clear, with succinct subsections within each chapter....Without reservation, I endorse this text as the best resource I’ve encountered that neatly introduces and summarizes many points I’ve learned through years of experience. The gems of truth found in this book will serve well those who wish to apply bioinformatics in their daily work, as well as help them advise others in this capacity.” CIRCULATION: CARDIOVASCULAR GENETICS A fully revised version of the successful First Edition, this one-stop reference book enables all geneticists to improve the efficiency of their research. The study of human genetics is moving into a challenging new era. New technologies and data resources such as the HapMap are enabling genome-wide studies, which could potentially identify most common genetic determinants of human health, disease and drug response. With these tremendous new data resources at hand, more than ever care is required in their use. Faced with the sheer volume of genetics and genomic data, bioinformatics is essential to avoid drowning true signal in noise. Considering these challenges, Bioinformatics for Geneticists, Second Edition works at multiple levels: firstly, for the occasional user who simply wants to extract or analyse specific data; secondly, at the level of the advanced user providing explanations of how and why a tool works and how it can be used to greatest effect. Finally experts from fields allied to genetics give insight into the best genomics tools and data to enhance a genetic experiment. Hallmark Features of the Second Edition: Illustrates the value of bioinformatics as a constantly evolving avenue into novel approaches to study genetics The only book specifically addressing the bioinformatics needs of geneticists More than 50% of chapters are completely new contributions Dramatically revised content in core areas of gene and genomic characterisation, pathway analysis, SNP functional analysis and statistical genetics Focused on freely available tools and web-based approaches to bioinformatics analysis, suitable for novices and experienced researchers alike Bioinformatics for Geneticists, Second Edition describes the key bioinformatics and genetic analysis processes that are needed to identify human genetic determinants. The book is based upon the combined practical experience of domain experts from academic and industrial research environments and is of interest to a broad audience, including students, researchers and clinicians working in the human genetics domain.
| Author | : John Quackenbush |
| Publisher | : Charlesbridge |
| Total Pages | : 189 |
| Release | : 2011-02-01 |
| Genre | : Science |
| ISBN | : 1607343568 |
The DNA sequence that comprises the human genome--the genetic blueprint found in each of our cells--is undoubtedly the greatest code ever to be broken. Completed at the dawn of a new millennium, the feat electrified both the scientific community and the general public with its tantalizing promise of new and better treatments for countless diseases, including Alzheimer's, cancer, diabetes, and Parkinson's. Yet what is arguably the most important discovery of our time has also opened a Pandora's box of questions about who we are as humans and how the unique information stored in our genomes can and might be used, making it all the more important for everyone to understand the new science of genomics. In the CURIOSITY GUIDE TO THE HUMAN GENOME, Dr. John Quackenbush, a renowned scientist and professor, conducts a fascinating tour of the history and science behind the Human Genome Project and the technologies that are revolutionizing the practice of medicine today. With a clear and engaging narrative style, he demystifies the fundamental principles of genetics and molecular biology, including the astounding ways in which genes function, alone or together with other genes and the environment, to either sustain life or trigger disease. In addition, Dr. Quackenbush goes beyond medicine to examine how DNA-sequencing technology is changing how we think of ourselves as a species by providing new insights about our earliest ancestors and reconfirming our inextricable link to all life on earth. Finally, he explores the legal and ethical questions surrounding such controversial topics as stem cell research, prenatal testing, forensics, and cloning, making this volume of the Curiosity Guides series an indispensable resource for navigating our brave new genomic world.
| Author | : Muin J. Khoury |
| Publisher | : Oxford University Press |
| Total Pages | : 701 |
| Release | : 2010-01-20 |
| Genre | : Medical |
| ISBN | : 0195398440 |
The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace.With contributions from leaders in the field from around the world, this new edition is a fully updated look at the ways in which genetic factors in common diseases are studied. Methodologic developments in collection, analysis and synthesis of data, as well as issues surrounding specific applications of human genomic information for medicine and public health are all discussed. In addition, the book focuses on practical applications of human genome variation in clinical practice and disease prevention. Students, clinicians, public health professionals and policy makers will find the book a useful tool for understanding the rapidly evolving methods of the discovery and use of genetic information in medicine and public health in the 21st century.
| Author | : Natalia Maltsev |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 134 |
| Release | : 2013-11-29 |
| Genre | : Science |
| ISBN | : 1461487781 |
Understanding the genetic architecture underlying complex multigene disorders is one of the major goals of human genetics in the upcoming decades. Advances in whole genome sequencing and the success of high throughput functional genomics allow supplementing conventional reductionist biology with systems-level approaches to human heredity and health as systems of interacting genetic, epigenetic, and environmental factors. This integrative approach holds the promise of unveiling yet unexplored levels of molecular organization and biological complexity. It may also hold the key to deciphering the multigene patterns of disease inheritance.
| Author | : Leena Rawal |
| Publisher | : Springer |
| Total Pages | : 170 |
| Release | : 2017-06-08 |
| Genre | : Medical |
| ISBN | : 9811042985 |
This book highlights selected current data and its relevance in the human health care system, offering a fundamental primer on genetics and human health. With the advent of new high-throughput technologies (for the whole genome including exome sequencing), the conventional focus on genetics and individual genes is now shifting toward the analysis of complex genes, gene-gene interactions and the association between genes and environment, including epigenetics. The rapidly changing scientific research landscape, with the ever-growing influx of data on one hand and emergence of newer and more complicated diseases on the other, has created a dilemma for researchers and caregivers, who are still hopeful that advances in genetics and genomics will provide avenues for the understanding, prevention and possible cure of human diseases. The book focuses on the interactions between genes and proteins at both the transcriptome and proteome levels, which in turn affect the human genome and health. Additionally, it covers the domain that must be explored in order to understand the gene-gene and protein-protein interactions that contribute to human health. The book offers a valuable guide for all students and researchers working in the area of molecular genetics and genomics.
| Author | : National Research Council |
| Publisher | : National Academies Press |
| Total Pages | : 128 |
| Release | : 1988-01-01 |
| Genre | : Science |
| ISBN | : 0309038405 |
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
