Human Genetic Disease Analysis PDF Download

Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Human Genetic Disease Analysis PDF full book. Access full book title Human Genetic Disease Analysis by Kay E. Davies. Download full books in PDF and EPUB format.

Human Genetic Disease Analysis

Human Genetic Disease Analysis PDF Author: Kay E. Davies
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 152

Book Description
This book covers all of the commonly used methods for the analysis and diagnosis of human genetic diseases. The chapters describe the analysis of gene mutations as well as the functional organization of genes and chromosomal regions, keeping up-to-date with recent advances in the field. Revisions in this second edition include sections on PCR and FISH. When the first edition of this book was published, prenatal diagnosis based on DNA analysis was performed in two weeks. The advent of PCR has allowed this process to be completed in just a few hours. PCR has had an impact in almost all areas of molecular medicine and thus all the chapters in this new edition have been significantly revised. The development of fluorescence in situ hybridization (FISH) has been important for both genome analysis and diagnosis. This revolutionary new technology is detailed in this volume. The book will be valuable for scientists working in a pure research environment as well as those in service laboratories analyzing different human disease mutations.

Human Genetic Disease Analysis

Human Genetic Disease Analysis PDF Author: Kay E. Davies
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 152

Book Description
This book covers all of the commonly used methods for the analysis and diagnosis of human genetic diseases. The chapters describe the analysis of gene mutations as well as the functional organization of genes and chromosomal regions, keeping up-to-date with recent advances in the field. Revisions in this second edition include sections on PCR and FISH. When the first edition of this book was published, prenatal diagnosis based on DNA analysis was performed in two weeks. The advent of PCR has allowed this process to be completed in just a few hours. PCR has had an impact in almost all areas of molecular medicine and thus all the chapters in this new edition have been significantly revised. The development of fluorescence in situ hybridization (FISH) has been important for both genome analysis and diagnosis. This revolutionary new technology is detailed in this volume. The book will be valuable for scientists working in a pure research environment as well as those in service laboratories analyzing different human disease mutations.

Genome Analysis and Human Health

Genome Analysis and Human Health PDF Author: Leena Rawal
Publisher: Springer
ISBN: 9789811350993
Category : Medical
Languages : en
Pages : 0

Book Description
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.

Gene Future

Gene Future PDF Author: Thomas F. Lee
Publisher: Springer Science & Business Media
ISBN: 1489927603
Category : Science
Languages : en
Pages : 341

Book Description
"As Lee so wisely and eloquently cautions, there may be perils along this pathway as well as miraculous discoveries. Do dangers lurk in this new technological approach to nature? May we unwittingly be doing irreparable harm to individuals, not to mention the biosphere? This perceptive author even-handedly assesses the controversies surrounding the perils that may await us as molecular science moves out of the laboratory and into our homes and environment. This fascinating and comprehensive volume shows that the time has come to confront our gene future, because our gene future is now."--Jacket

Genes, Behavior, and the Social Environment

Genes, Behavior, and the Social Environment PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309101964
Category : Social Science
Languages : en
Pages : 385

Book Description
Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.

Bioinformatics for Diagnosis, Prognosis and Treatment of Complex Diseases

Bioinformatics for Diagnosis, Prognosis and Treatment of Complex Diseases PDF Author: Bairong Shen
Publisher: Springer Science & Business Media
ISBN: 9400779755
Category : Science
Languages : en
Pages : 220

Book Description
The book introduces the bioinformatics tools, databases and strategies for the translational research, focuses on the biomarker discovery based on integrative data analysis and systems biological network reconstruction. With the coming of personal genomics era, the biomedical data will be accumulated fast and then it will become reality for the personalized and accurate diagnosis, prognosis and treatment of complex diseases. The book covers both state of the art of bioinformatics methodologies and the examples for the identification of simple or network biomarkers. In addition, bioinformatics software tools and scripts are provided to the practical application in the study of complex diseases. The present state, the future challenges and perspectives were discussed. The book is written for biologists, biomedical informatics scientists and clinicians, etc. Dr. Bairong Shen is Professor and Director of Center for Systems Biology, Soochow University; he is also Director of Taicang Center for Translational Bioinformatics.

Disease Analysis Through Genetics and Biotechnology

Disease Analysis Through Genetics and Biotechnology PDF Author: John F. Leslie
Publisher: Wiley-Blackwell
ISBN:
Category : Medical
Languages : en
Pages : 388

Book Description
Focusing on the most important sorghum and millet diseases, this book is the result of an international conference on diseases of sorghum and millet from different growing regions of the world. New research approaches to improve disease management strategies are included.

Mathematical and Statistical Methods for Genetic Analysis

Mathematical and Statistical Methods for Genetic Analysis PDF Author: Kenneth Lange
Publisher: Springer Science & Business Media
ISBN: 9780387949093
Category : Genetics
Languages : en
Pages : 0

Book Description
During the past decade, geneticists have constructed detailed maps of the human genome and cloned scores of Mendelian disease genes. These insights into human disease and evolution which have transformed medicine and agriculture depend on the contributions of applied mathematicians, statisticians, and computer scientists. This work is written to help readers understand and model the epidemiological and experimental data encountered in genetics research.

Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease PDF Author: Rajesh V. Thakker
Publisher: Academic Press
ISBN: 0128041986
Category : Medical
Languages : en
Pages : 878

Book Description
Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder

Applied Molecular Biotechnology

Applied Molecular Biotechnology PDF Author: Muhammad Sarwar Khan
Publisher: CRC Press
ISBN: 1040056709
Category : Medical
Languages : en
Pages : 608

Book Description
Applied Molecular Biotechnology: The Next Generation of Genetic Engineering explains state-of-the-art advances in the rapidly developing area of molecular biotechnology, the technology of the new millennium. Comprised of chapters authored by leading experts in their respective fields, this authoritative reference text:Highlights the latest omics-ba

Genetics and Evolution of Infectious Diseases

Genetics and Evolution of Infectious Diseases PDF Author: Michel Tibayrenc
Publisher: Elsevier
ISBN: 0123848903
Category : Medical
Languages : en
Pages : 773

Book Description
Genetics and Evolution of Infectious Diseases is at the crossroads between two major scientific fields of the 21st century: evolutionary biology and infectious diseases. The genomic revolution has upset modern biology and has revolutionized our approach to ancient disciplines such as evolutionary studies. In particular, this revolution is profoundly changing our view on genetically driven human phenotypic diversity, and this is especially true in disease genetic susceptibility. Infectious diseases are indisputably the major challenge of medicine. When looking globally, they are the number one killer of humans and therefore the main selective pressure exerted on our species. Even in industrial countries, infectious diseases are now far less under control than 20 years ago. The first part of this book covers the main features and applications of modern technologies in the study of infectious diseases. The second part provides detailed information on a number of the key infectious diseases such as malaria, SARS, avian flu, HIV, tuberculosis, nosocomial infections and a few other pathogens that will be taken as examples to illustrate the power of modern technologies and the value of evolutionary approaches. Takes an integrated approach to infectious diseases Includes contributions from leading authorities Provides the latest developments in the field