Polymorphism Vs Mutation
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Genetic Polymorphism and cancer susceptibility
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.
Mutation and Evolution
Author: Ronny C. Woodruff
language: en
Publisher: Springer Science & Business Media
Release Date: 2012-12-06
Although debated since the time of Darwin, the evolutionary role of mutation is still controversial. In over 40 chapters from leading authorities in mutation and evolutionary biology, this book takes a new look at both the theoretical and experimental measurement and significance of new mutation. Deleterious, nearly neutral, beneficial, and polygenic mutations are considered in their effects on fitness, life history traits, and the composition of the gene pool. Mutation is a phenomenon that draws attention from many different disciplines. Thus, the extensive reviews of the literature will be valuable both to established researchers and to those just beginning to study this field. Through up-to-date reviews, the authors provide an insightful overview of each topic and then share their newest ideas and explore controversial aspects of mutation and the evolutionary process. From topics like gonadal mosaicism and mutation clusters to adaptive mutagenesis, mutation in cell organelles, and the level and distribution of DNA molecular changes, the foundation is set for continuing the debate about the role of mutation, fitness, and adaptability. It is a debate that will have profound consequences for our understanding of evolution.
Next Generation Sequencing
Author: Lee-Jun C. Wong
language: en
Publisher: Springer Science & Business Media
Release Date: 2013-05-31
In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future.