Ian N. Day - Böcker

As genomic science and potential gene therapies continue to develop, the detection of mutations plays an increasingly central role in diverse areas of biology. With innumerable detection techniques available spanning multiple disciplines, the choice of the best method for a particular study can prove exceedingly difficult. Complexity, equipment requirements, cost, and throughput are all factors to consider, along with the huge amount of information already available through genome sequencing projects.An essential go-to for informed decision-making, the Guide to Mutation Detection is the only single source for the theory and practice of mutation analysis needed to design an experiment. User-friendly, concise, and expertly edited by recognized leaders in the field, the text provides a cutting-edge reference that is still accessible to those with no experience in mutation analysis.The coverage is divided into two sections, with the first section reviewing such topics as:* Key technologies* Mutation scanning* Cleavage* Quality control* High throughput approaches* Databases* NomenclaturesThe second section focuses on step-by-step protocols and discussion of methods, including:* Tag-array minisequencing* Electronic hybridization* Pyrosequencing* Fluorescent Single-Stranded Conformation Polymorphism (SSCP)* Denaturing High-Performance Liquid Chromatography (DHPLC)* Array Comparative Genomic Hybridization (ACGH)* Microplate Array Diagonal Gel Electrophoresis (MADGE)Throughout the text, the emphasis remains on practical applications. The detailedprotocols derive from the well-regarded Human Genome Organization (HUGO) training course, particularly those in Montpellier, France, 2002, organized by Mirielle Claustres, Johan den Dunnen, and Graham Taylor. Useful appendices contain important safety data, supplier lists, and bioinformatics resources.Up-to-date, user friendly, and comprehensive, the Guide to Mutation Detection is an invaluable resource for students and practitioners working across a wide range of genetics-related disciplines.

This volume describes high-throughput approaches to a series of robust, established methodologies in molecular genetic studies of population samples. Such developments have been essential not only to linkage and association studies of single-gene and complex traits in humans, animals and plants, but also to the characterisation of clone banks, for example in mapping of genomes. Chapters have been written by developers or highly experienced end-users concerned with a diverse array of biological applications. The book should appeal to any researcher for whom costs and throughput in their genetics laboratory have become an issue.