Human Genetic Disease Analysis


Human Genetic Disease Analysis
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Human Genetic Disease Analysis


Human Genetic Disease Analysis
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Author : Kay E. Davies
language : en
Publisher:
Release Date : 2023

Human Genetic Disease Analysis written by Kay E. Davies and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023 with Genetic disorders categories.


Covering all the commonly used methods for the analysis and diagnosis of human genetic diseases, this book will prove invaluable for scientists working in a pure research environment as well as those in service laboratories. The analysis of gene mutations and the functional organization of genes and chromosomal regions are explained. Additionally, the book reflects the many recent advances in the techniques for analysing human genetic disease, especially the advent of PCR and the development of fluorescence in situ hybridization (FISH).



Systems Analysis Of Human Multigene Disorders


Systems Analysis Of Human Multigene Disorders
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Author : Natalia Maltsev
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-11-29

Systems Analysis Of Human Multigene Disorders written by Natalia Maltsev and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-11-29 with Science categories.


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.



Genetic Analysis Of Complex Disease


Genetic Analysis Of Complex Disease
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Author : Jonathan L. Haines
language : en
Publisher: John Wiley & Sons
Release Date : 2007-02-26

Genetic Analysis Of Complex Disease written by Jonathan L. Haines and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-02-26 with Science categories.


Second Edition features the latest tools for uncovering thegenetic basis of human disease The Second Edition of this landmark publication bringstogether a team of leading experts in the field to thoroughlyupdate the publication. Readers will discover the tremendousadvances made in human genetics in the seven years that haveelapsed since the First Edition. Once again, the editorshave assembled a comprehensive introduction to the strategies,designs, and methods of analysis for the discovery of genes incommon and genetically complex traits. The growing social, legal,and ethical issues surrounding the field are thoroughly examined aswell. Rather than focusing on technical details or particularmethodologies, the editors take a broader approach that emphasizesconcepts and experimental design. Readers familiar with theFirst Edition will find new and cutting-edge materialincorporated into the text: Updated presentations of bioinformatics, multiple comparisons,sample size requirements, parametric linkage analysis, case-controland family-based approaches, and genomic screening New methods for analysis of gene-gene and gene-environmentinteractions A completely rewritten and updated chapter on determininggenetic components of disease New chapters covering molecular genomic approaches such asmicroarray and SAGE analyses using single nucleotide polymorphism(SNP) and cDNA expression data, as well as quantitative trait loci(QTL) mapping The editors, two of the world's leading genetic epidemiologists,have ensured that each chapter adheres to a consistent and highstandard. Each one includes all-new discussion questions andpractical examples. Chapter summaries highlight key points, and alist of references for each chapter opens the door to furtherinvestigation of specific topics. Molecular biologists, human geneticists, geneticepidemiologists, and clinical and pharmaceutical researchers willfind the Second Edition a helpful guide to understanding thegenetic basis of human disease, with its new tools for detectingrisk factors and discovering treatment strategies.



Molecular And Genetic Analysis Of Human Traits


Molecular And Genetic Analysis Of Human Traits
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Author : Gustavo Maroni
language : en
Publisher: John Wiley & Sons
Release Date : 2008-04-15

Molecular And Genetic Analysis Of Human Traits written by Gustavo Maroni and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-04-15 with Science categories.


Molecular and Genetic Analysis of Human Traits will address the science student human genetics market. Although incorporating two basic themes: how do we establish that a trait is hereditary, and how is the human genome organized, it will also address relevant clinical examples and key related ethical issues. New attractive features have been added, including a chapter project, and end of chapter exercises which rely on real data. Each chapter includes end of chapter exercises, and references. In-text examples and internet references are cited. Most figures will be 2 color, with some 4 color inserts.



Genetic Analysis Of Complex Disease


Genetic Analysis Of Complex Disease
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Author : William K. Scott
language : en
Publisher: John Wiley & Sons
Release Date : 2021-11-11

Genetic Analysis Of Complex Disease written by William K. Scott and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-11-11 with Science categories.


Genetic Analysis of Complex Diseases An up-to-date and complete treatment of the strategies, designs and analysis methods for studying complex genetic disease in human beings In the newly revised Third Edition of Genetic Analysis of Complex Diseases, a team of distinguished geneticists delivers a comprehensive introduction to the most relevant strategies, designs and methods of analysis for the study of complex genetic disease in humans. The book focuses on concepts and designs, thereby offering readers a broad understanding of common problems and solutions in the field based on successful applications in the design and execution of genetic studies. This edited volume contains contributions from some of the leading voices in the area and presents new chapters on high-throughput genomic sequencing, copy-number variant analysis and epigenetic studies. Providing clear and easily referenced overviews of the considerations involved in genetic analysis of complex human genetic disease, including sampling, design, data collection, linkage and association studies and social, legal and ethical issues. Genetic Analysis of Complex Diseases also provides: A thorough introduction to study design for the identification of genes in complex traits Comprehensive explorations of basic concepts in genetics, disease phenotype definition and the determination of the genetic components of disease Practical discussions of modern bioinformatics tools for analysis of genetic data Reflecting on responsible conduct of research in genetic studies, as well as linkage analysis and data management New expanded chapter on complex genetic interactions This latest edition of Genetic Analysis of Complex Diseases is a must-read resource for molecular biologists, human geneticists, genetic epidemiologists and pharmaceutical researchers. It is also invaluable for graduate students taking courses in statistical genetics or genetic epidemiology.



Analysis Of Complex Disease Association Studies


Analysis Of Complex Disease Association Studies
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Author : Eleftheria Zeggini
language : en
Publisher: Academic Press
Release Date : 2010-11-17

Analysis Of Complex Disease Association Studies written by Eleftheria Zeggini and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-11-17 with Science categories.


According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. Analysis of Complex Disease Association Studies will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research. Additional tools including links to analysis tools, tutorials, and references will be available electronically to ensure the latest information is available. Easy access to key information including advantages and disadvantage of tests for particular applications, identification of databases, languages and their capabilities, data management risks, frequently used tests Extensive list of references including links to tutorial websites Case studies and Tips and Tricks



Analysis Of Human Genetic Linkage


Analysis Of Human Genetic Linkage
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Author : Jurg Ott
language : en
Publisher: JHU Press
Release Date : 1999-04-16

Analysis Of Human Genetic Linkage written by Jurg Ott and has been published by JHU Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1999-04-16 with Medical categories.


Introduction and basic genetic principles; Genetic loci genetic polymorphisms; Aspects of statistical inference; Basics of linkage analysis; The informativeness of family data; Multipoint linkage analysis; Penetrance; Quantitative phenotypes; Numerical and computerized methods; Variability of the recombination fraction; Inconsistencies; Linkage analysis with mendelian disease loci; Nonparametric methods; Two-locus inheritance; Complex traits.



Genome Analysis And Human Health


Genome Analysis And Human Health
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Author : Leena Rawal
language : en
Publisher: Springer
Release Date : 2017-06-08

Genome Analysis And Human Health written by Leena Rawal and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-06-08 with Medical categories.


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.



Genes In Medicine


Genes In Medicine
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Author : I. Rasko
language : en
Publisher: Springer Science & Business Media
Release Date : 1994-09-30

Genes In Medicine written by I. Rasko and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994-09-30 with Medical categories.


This stimulating book bridges the gap between molecular biology and human genetics. Specifically written for medical students and human geneticists, it is a valuable guide to a rapidly moving field.



Human Genetic Diseases


Human Genetic Diseases
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Author : Dijana Plaseska-Karanfilska
language : en
Publisher: BoD – Books on Demand
Release Date : 2011-10-03

Human Genetic Diseases written by Dijana Plaseska-Karanfilska and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-10-03 with Medical categories.


The genetics science is less than 150 years old, but its accomplishments have been astonishing. Genetics has become an indispensable component of almost all research in modern biology and medicine. Human genetic variation is associated with many, if not all, human diseases and disabilities. Nowadays, studies investigating any biological process, from the molecular level to the population level, use the "genetic approach" to gain understanding of that process. This book contains many diverse chapters, dealing with human genetic diseases, methods to diagnose them, novel approaches to treat them and molecular approaches and concepts to understand them. Although this book does not give a comprehensive overview of human genetic diseases, I believe that the sixteen book chapters will be a valuable resource for researchers and students in different life and medical sciences.