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Single Nucleotide Polymorphisms

Single Nucleotide Polymorphisms PDF Author: Anton A. Komar
Publisher: Humana Press
ISBN: 9781617796791
Category : Medical
Languages : en
Pages : 464

Book Description
In recent years, single nucleotide polymorphisms have received increased and special attention in a rapidly developing field of personalized medicine and drug treatment. Comprising more than eighty percent of all known polymorphisms, single nucleotide polymorphisms (SNPs) are primarily responsible for phenotypic differences between individuals, and have been suggested to affect the development of diseases in humans and the response to drug treatment and environmental stress. In Single Nucleotide Polymorphisms: Methods and Protocols, Second Edition, expert researchers explore the latest advances in this area, highlighting the substantial progress that has been made in SNP genotyping, examining recent developments in high-throughput genotyping approaches, and exploring our new understanding of the impact of SNPs on gene function. Chapters address the impact of SNPs on phenotype, examine SNP databases, look at methods that have been applied for SNP bioinformatics discovery and analysis, and discuss advanced experimental approaches used for SNP detection. Composed in the highly successful Methods in Molecular BiologyTM series format, each chapter contains a brief introduction, step-by-step methods, a list of necessary materials, and a Notes section which shares tips on troubleshooting and avoiding known pitfalls. Current and innovative, Single Nucleotide Polymorphisms: Methods and Protocols, Second Edition is an essential guidebook for individual researchers as well as institutions and companies working in the field.

Single Nucleotide Polymorphisms

Single Nucleotide Polymorphisms PDF Author: Anton A. Komar
Publisher: Humana Press
ISBN: 9781617796791
Category : Medical
Languages : en
Pages : 464

Book Description
In recent years, single nucleotide polymorphisms have received increased and special attention in a rapidly developing field of personalized medicine and drug treatment. Comprising more than eighty percent of all known polymorphisms, single nucleotide polymorphisms (SNPs) are primarily responsible for phenotypic differences between individuals, and have been suggested to affect the development of diseases in humans and the response to drug treatment and environmental stress. In Single Nucleotide Polymorphisms: Methods and Protocols, Second Edition, expert researchers explore the latest advances in this area, highlighting the substantial progress that has been made in SNP genotyping, examining recent developments in high-throughput genotyping approaches, and exploring our new understanding of the impact of SNPs on gene function. Chapters address the impact of SNPs on phenotype, examine SNP databases, look at methods that have been applied for SNP bioinformatics discovery and analysis, and discuss advanced experimental approaches used for SNP detection. Composed in the highly successful Methods in Molecular BiologyTM series format, each chapter contains a brief introduction, step-by-step methods, a list of necessary materials, and a Notes section which shares tips on troubleshooting and avoiding known pitfalls. Current and innovative, Single Nucleotide Polymorphisms: Methods and Protocols, Second Edition is an essential guidebook for individual researchers as well as institutions and companies working in the field.

Single Nucleotide Polymorphisms

Single Nucleotide Polymorphisms PDF Author: Pui-Yan Kwok
Publisher: Springer Science & Business Media
ISBN: 1592593275
Category : Medical
Languages : en
Pages : 276

Book Description
A comprehensive collection of readily reproducible techniques for the difficult process of single nucleotide polymorphisms (SNP) discovery and genotyping. These cutting-edge protocols for mutation/SNP detection utilize denaturing high-performance liquid chromatography (dHPLC), single-strand conformation polymorphism (SSCP), conformation-sensitive gel electrophoresis (CSGE), chemical cleavage, and direct sequencing. Equally powerful and up-to-date methods are given for genotyping SNPs, including molecular beacons, the Taqman assay, single-base extension approaches, pyrosequencing, ligation, the Invader assay, and primer extension with mass spectrometry detection.

Association Mapping in Plants

Association Mapping in Plants PDF Author: Nnadozie C. Oraguzie
Publisher: Springer Science & Business Media
ISBN:
Category : Science
Languages : en
Pages : 304

Book Description
For the past decade, there has been success in using conventional map-based strategies in identification and cloning of quantitative trait loci (QTL) in model plant species including tomato and Arabidopsis. These quantitative traits are generally the products of many loci with varying degrees of effect upon the observed phenotypes. Recently, a new approach to genetic mapping has emerged called association mapping. This new technique takes into account the thousands of genes to evaluate for QTL effect and is a more efficient approach that does not require generation of segregating populations/large numbers of progeny. As it can utilize all of the historic recombination events in a diverse population of individuals it can generate higher resolution genetic maps and, is needed to complement current map based cloning methods. Association Mapping in Plants provides both basic and advanced understanding of association mapping and an awareness of population genomics tools to facilitate mapping and identification of the underlying causes of quantitative trait variation in plants. It acts as a useful review of the marker technology, the statistical methodology, and the progress to date. It also offers guides to the use of single nucleotide polymorphisms (SNPs) in association studies. This book will appeal to all those with an interest in plant genetics, plant breeding, and plant genomics. About the Editors: Dr. Nnadozie C. Oraguzie is a Senior Scientist in Genetics at the Horticulture and Food Research Institute of New Zealand Ltd (HortResearch). Dr. Erik H. A. Rikkerink is a Science Leader at HortResearch, New Zealand. Dr. Susan E. Gardiner is a Principal Scientist and leader of the Gene Mapping research team at HortResearch, New Zealand. Dr. H. Nihal De Silva/STRONG is a Senior Scientist of Biometrics at HortResearch, New Zealand.

Genetic Polymorphism and cancer susceptibility

Genetic Polymorphism and cancer susceptibility PDF Author: Aga Syed Sameer
Publisher: Springer Nature
ISBN: 9813366990
Category : Medical
Languages : en
Pages : 353

Book Description
This book discusses the role of genetic polymorphism in susceptibility to cancers. The book explores the understanding of differences between the genetic polymorphisms and mutations.It reviews the mechanisms underlying the effect of polymorphism in genes encoding proteins that play an essential role in metabolism, signal transduction, cell cycle, and DNA repair mechanisms. Further, it investigates various techniques that are used for analyzing the genetic polymorphisms. The book contains many chapters which summarize the importance of genetic information obtained from polymorphism-based pharmaco-genetic tests to predict better drug response and life-threatening adverse reactions to chemotherapeutic agents, help in understanding of the impact of SNPs on gene function, and gives overview of the different SNP databases for examination. This book, therefore, serves as an essential guidebook for independent researchers as well as institutions working in this specialised field.

Advances in Animal Genomics

Advances in Animal Genomics PDF Author: Sukanta Mondal
Publisher: Academic Press
ISBN: 0128206128
Category : Science
Languages : en
Pages : 340

Book Description
Advances in Animal Genomics provides an outstanding collection of integrated strategies involving traditional and modern - omics (structural, functional, comparative and epigenomics) approaches and genomics-assisted breeding methods which animal biotechnologists can utilize to dissect and decode the molecular and gene regulatory networks involved in the complex quantitative yield and stress tolerance traits in livestock. Written by international experts on animal genomics, this book explores the recent advances in high-throughput, next-generation whole genome and transcriptome sequencing, array-based genotyping, and modern bioinformatics approaches which have enabled to produce huge genomic and transcriptomic resources globally on a genome-wide scale. This book is an important resource for researchers, students, educators and professionals in agriculture, veterinary and biotechnology sciences that enables them to solve problems regarding sustainable development with the help of current innovative biotechnologies. - Integrates basic and advanced concepts of animal biotechnology and presents future developments - Describes current high-throughput next-generation whole genome and transcriptome sequencing, array-based genotyping, and modern bioinformatics approaches for sustainable livestock production - Illustrates integrated strategies to dissect and decode the molecular and gene regulatory networks involved in complex quantitative yield and stress tolerance traits in livestock - Ensures readers will gain a strong grasp of biotechnology for sustainable livestock production with its well-illustrated discussion

Human Reproductive Genetics

Human Reproductive Genetics PDF Author: Juan A. Garcia-Velasco
Publisher: Academic Press
ISBN: 0128167491
Category : Medical
Languages : en
Pages : 342

Book Description
Human Reproductive Genetics: Emerging Technologies and Clinical Applications presents a great reference for clinicians and researchers in reproductive medicine. Part I includes a brief background of genetics and epigenetics, probability of disease, and the different techniques that are being used today for analysis and genetic counseling. Part II focuses on the analysis of the embryo, current controversies and future concepts. Part III comprises different clinical scenarios that clinicians frequently face in practice. The increasing amount of genetic tests available and the growing information that patients handle makes this section a relevant part of the fertility treatment discussion. Finally, Part IV concludes with the psychological aspects of genetic counseling and the role of counselor and bioethics in human reproduction. - Provides an essential reference for clinicians involved in reproductive medicine - Builds foundational knowledge on new genetic tests coming into the clinical scenario for physicians involved with patients - Assembles critically evaluated chapters that cover basic concepts of genetics and epigenetics and the techniques involved, including preimplantation genetic testing, controversies, and more

Brenner and Rector's The Kidney E-Book

Brenner and Rector's The Kidney E-Book PDF Author: Karl Skorecki
Publisher: Elsevier Health Sciences
ISBN: 0323550851
Category : Medical
Languages : en
Pages : 2748

Book Description
Put the world’s most well-known kidney reference to work in your practice with the 11th Edition of Brenner & Rector’s The Kidney. This two-volume masterwork provides expert, well-illustrated information on everything from basic science and pathophysiology to clinical best practices. Addressing current issues such as new therapies for cardiorenal syndrome, the increased importance of supportive or palliative care in advanced chronic kidney disease, increasing live kidney donation in transplants, and emerging discoveries in stem cell and kidney regeneration, this revised edition prepares you for any clinical challenge you may encounter. Extensively updated chapters throughout, providing the latest scientific and clinical information from authorities in their respective fields. Lifespan coverage of kidney health and disease from pre-conception through fetal and infant health, childhood, adulthood, and old age. Discussions of today’s hot topics, including the global increase in acute kidney injury, chronic kidney disease of unknown etiology, cardiovascular disease and renal disease, and global initiatives for alternatives in areas with limited facilities for dialysis or transplant. New Key Points that represent either new findings or "pearls" of information that are not widely known or understood. New Clinical Relevance boxes that highlight the information you must know during a patient visit, such as pertinent physiology or pathophysiology. Hundreds of full-color, high-quality photographs as well as carefully chosen figures, algorithms, and tables that illustrate essential concepts, nuances of clinical presentation and technique, and clinical decision making. A new editor who is a world-renowned expert in global health and nephrology care in underserved populations, Dr. Valerie A. Luyckx from University of Zürich. Board review-style questions to help you prepare for certification or recertification.

Mutation Detection

Mutation Detection PDF Author: R. G. H. Cotton
Publisher: IRL Press
ISBN: 0191565695
Category : Science
Languages : en
Pages : 266

Book Description
Mutation detection is increasingly undertaken in a wide spectrum of research areas: in medicine it is fundamental in isolating disease genes and diagnbosis, and is especially important in cancer research; in biology, commercially important genes can be identified by the mutations they contain. But mutation detection is time-consuming and expensive. This volume offers the latest tried and tested protocols for a range of detection methods, from the labs of the leading researchers in the field.

Genetic Diversity and Disease Susceptibility

Genetic Diversity and Disease Susceptibility PDF Author: Yamin Liu
Publisher: BoD – Books on Demand
ISBN: 1789842018
Category : Medical
Languages : en
Pages : 166

Book Description
Polymorphism or variation in DNA sequence can affect individual phenotypes such as color of skin or eyes, susceptibility to diseases, and response to drugs, vaccines, chemicals, and pathogens. Especially, the interfaces between genetics, disease susceptibility, and pharmacogenomics have recently been the subject of intense research activity. This book is a self-contained collection of valuable scholarly papers related to genetic diversity and disease susceptibility, pharmacogenomics, ongoing advances in technology, and analytic methods in this field. The book contains nine chapters that cover the three main topics of genetic polymorphism, genetic diversity, and disease susceptibility and pharmacogenomics. Hence, this book is particularly useful to academics, scientists, physicians, pharmacists, practicing researchers, and postgraduate students whose work relates to genetic polymorphisms.

Advanced Topics in Forensic DNA Typing: Interpretation

Advanced Topics in Forensic DNA Typing: Interpretation PDF Author: John M. Butler
Publisher: Academic Press
ISBN: 012405854X
Category : Social Science
Languages : en
Pages : 609

Book Description
Advanced Topics in Forensic DNA Typing: Interpretation builds upon the previous two editions of John Butler's internationally acclaimed Forensic DNA Typing textbook with forensic DNA analysts as its primary audience. Intended as a third-edition companion to the Fundamentals of Forensic DNA Typing volume published in 2010 and Advanced Topics in Forensic DNA Typing: Methodology published in 2012, this book contains 16 chapters with 4 appendices providing up-to-date coverage of essential topics in this important field. Over 80 % of the content of this book is new compared to previous editions. - Provides forensic DNA analysts coverage of the crucial topic of DNA mixture interpretation and statistical analysis of DNA evidence - Worked mixture examples illustrate the impact of different statistical approaches for reporting results - Includes allele frequencies for 24 commonly used autosomal STR loci, the revised Quality Assurance Standards which went into effect September 2011