Single Nucleotide Polymorphisms

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.

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.

This anthology presents critical reviews of methods and high-impact applications in computational biology that lead to results that non-bioinformaticians must also know to design efficient experimental research plans. Discovering Biomolecular Mechanisms with Computational Biology explores the methodology of translating sequence strings into biological knowledge and considers exemplary groundbreaking results such as unexpected enzyme discoveries. This book also summarizes non-trivial theoretical predictions for regulatory and metabolic networks that have received experimental confirmation.

This book explores the importance of Single Nucleotide Polymorphisms (SNPs) in biomedical research. As SNP technologies have evolved from labor intensive, expensive, time-consuming processes to relatively inexpensive methods, SNP discovery has exploded. In terms of human biology, this research, particularly since the completion of the Human Genome Project, has provided a detailed understanding of evolutionary forces that have generated SNPs. It also has shown how SNPs shape human variation. The ability to inexpensively generate and analyze vast amounts of genetic data is poised to transform our understanding of human evolution and biology. “Single Nucleotide Polymorphisms” covers a broad survey of SNPs and their classification into synonymous and non-synonymous; the role of SNPs in human disease; case studies providing specific examples of synonymous and non-synonymous SNPs associated with human diseases or affecting therapeutic interventions; mechanisms by which synonymous mutations affect protein levels or protein folding which affect human physiology and response to therapy; and the role of SNPs in personalized medicine. Understanding what SNPs are, how they have been shaped is necessary for an increasingly expanding audience. This research will revolutionize the future of medicine. Chapter 4 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com. SNPs Ability to Influence Disease Risk: Breaking the Silence on Synonymous Mutations in Cancer" is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

This book 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.

The objective of this Genetic Polymorphisms book is to rehighlight and provide few updates on the role of genetic polymorphisms in medicine and agriculture, which void emerging opinion on "full death" of genetic polymorphisms as useful genetic markers. Chapters presented here demonstrate the future benefit of SNPs in many genetic studies as well as prognosis disease and diagnosis.

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.

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.