mutation-analysis mutation-detection books

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PCR Mutation Detection Protocols (Methods in Molecular Biology)

publisher: Humana Press, published: 2002-04-04
ASIN: 0896036170
EAN: 9780896036178
sales rank: 2259574
1Bimal D. Theophilus and Ralph Rapley provide biological and clinical investigators with a comprehensive collection of new, recent, and updated PCR-based screening methods suitable for detecting the presence of both known and novel mutations. The methods cover point mutations (e.g., ASO-PCR, SSCP, DGGE, chemical cleavage), deletions (multiplex PCR, FISH, blotting), non-sense mutations (PTT), and more. The new and exciting techniques of DNA array analysis, along with such recently developed experimental methods as conformation-sensitive gel electrophoresis, are also included. Each chapter explains the basic theory behind the technique and provides valuable notes essential for its successful execution.

Bioinformatics for High Throughput Sequencing

publisher: Springer, published: 2011-10-25
ASIN: 1461407818
EAN: 9781461407812
sales rank: 625472
Next generation sequencing is revolutionizing molecular biology. Owing to this new technology it is now possible to carry out a panoply of experiments at an unprecedented low cost and high speed. These go from sequencing whole genomes, transcriptomes and small non-coding RNAs to description of methylated regions, identification protein – DNA interaction sites and detection of structural variation. The generation of gigabases of sequence information for each of this huge bandwidth of applications in just a few days makes the development of bioinformatics applications for next generation sequencing data analysis as urgent as challenging.

Guide to Mutation Detection

by: Human Genome Organization (HUGO)
publisher: Wiley, published: 2005-02-03
ASIN: 0471234443
EAN: 9780471234449
sales rank: 3048205
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
* Nomenclatures
The 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.

Mouse Phenotypes: A Handbook of Mutation Analysis (Manual)

by: Virginia E. Papaioannou
publisher: Cold Spring Harbor Laboratory Press, published: 2004-11-01
ASIN: 0879696400
EAN: 9780879696405
sales rank: 1326168
The generation of mutant mice raises many questions about the best means of phenotypic analysis, breeding, and maintenance. The answers are now available from two experts with a wealth of detailed knowledge never previously assembled in one volume. Informal and highly practical, this handbook provides step by step methods for troubleshooting experiments, from the basics of gene targeting through the analysis of postnatal effects.

Genetic Variance Detection : Technologies for Pharmacogenomics (Nuts & Bolts series)

publisher: DNA Press, published: 2006
ASIN: 0974876550
EAN: 9780974876559
sales rank: 3314375
This comprehensive reference for novice students and experienced scientists studying DNA in organisms compares and evaluates the technological choices available in detecting genetic variances in pharmacogenomics. Commonly used technologies such as sequencing, DNA array and chip technologies, mass spectrometry, gel- and chromatography-based technologies, as well as less commonly used methods are described in detail and illustrated with specific examples. Expert advice is presented on technological options to facilitate decisions about the utility and applicability of individual technologies for specific needs.

Technologies for Detection of DNA Damage and Mutations

publisher: Springer, published: 1996-07-31
ASIN: 0306452375
EAN: 9780306452376
sales rank: 2185239
''Useful and timely.'' ---Mutagenesis ''Of considerable value.'' ---Journal of Medical Genetics ''Quite readable....a comprehensive overview....perfectly covers the needs of those researchers who have to decide on the best strategy to identify damage or mutations at the molecular level.'' ---Trends in Cell Biology ''The formats of the presentations are uniform and ample and up-to-date references are provided at the end of each chapter...will be welcomed by postgraduate researchers of all ages and should retain its usefulness for a long time.'' ---Endeavour, 21(4), 1997 This important resource thoroughly reviews a wide range of techniques used in mutagenesis research-ranging from established techniques to recently developed methodologies-based on the polymerase chain reaction. DNA damage analysis, DNA repair assays, and mutation detection are a few of the techniques featured. Chapters present detailed experimental protocols benefiting researchers and students in the fields of toxicology, biotechniques, molecular biology, photobiology, medical genetics, and oncology.

Laboratory Methods for the Detection of Mutations and Polymorphisms in DNA

by: Graham R. Taylor
publisher: CRC Press, published: 1997-01-24
ASIN: 0849392330
EAN: 9780849392337
sales rank: 3953592
The analysis of DNA sequence polymorphisms and mutations is of central importance in understanding biological systems. This book is devoted to the experimental analysis of DNA and presents easy-to-follow protocols. Various techniques from the simple to the highly complex are detailed in this volume, providing a wide spectrum of available methods and practical advice. The methods are described in terms of:
History and background
Principles and theory
Equipment and reagents
Protocols
Troubleshooting
Applications
Improvements
Results
Comparisons with other methods
Future prospects and developments
This is an essential manual for researchers working in human, animal, or plant molecular genetics and is particularly valuable for hospital and commercial laboratories.

The Handbook of Plant Mutation Screening: Mining of Natural and Induced Alleles (Molecular Plant Biology)

publisher: Wiley-VCH, published: 2010-04-27
ASIN: 3527326049
EAN: 9783527326044
sales rank: 1753878
Induced mutagenesis is a common and promising method for screening for new crops with improved properties. This title introduces the different methods and then focuses on the screening, detection and analysis of the novel mutations. Written by a global team of authors the book is an indispensable tool for all scientists working on crop breeding in industry and academia.

Principles of Genome Analysis and Genomics

by: Sandy B. Primrose
publisher: Wiley-Blackwell, published: 2003-01-06
ASIN: 1405101202
EAN: 9781405101202
sales rank: 800576
With the first draft of the human genome project in the public domain and full analyses of model genomes now available, the subject matter of 'Principles of Genome Analysis and Genomics' is even 'hotter' now than when the first two editions were published in 1995 and 1998. In the new edition of this very practical guide to the different techniques and theory behind genomes and genome analysis, Sandy Primrose and new author Richard Twyman provide a fresh look at this topic. In the light of recent exciting advancements in the field, the authors have completely revised and rewritten many parts of the new edition with the addition of five new chapters. Aimed at upper level students, it is essential that in this extremely fast moving topic area the text is up to date and relevant.

Completely revised new edition of an established textbook.
Features new chapters and examples from exciting new research in genomics, including the human genome project.
Excellent new co-author in Richard Twyman, also co-author of the new edition of hugely popular Principles of Gene Manipulation.
Accompanying web-page to help students deal with this difficult topic at www.blackwellpublishing.com/primrose

Mutation: The History of an Idea from Darwin to Genomics

by: Elof Axel Carlson
publisher: Cold Spring Harbor Laboratory Pr, published: 2011-06-03
ASIN: 1936113309
EAN: 9781936113309
sales rank: 319886
Today, most scientists regard the term "mutation" as a description of a change in an individual gene, and more precisely as some minute alteration of the DNA of that gene, especially a nucleotide substitution. But the idea of mutation has changed considerably from the pre-Mendelian concepts of Darwin's generation, who viewed "fluctuating variations" as the raw material on which evolution acted, to today's up-to-the-minute genomic context of mutation. History of Mutation: From Darwinian Fluctuations to Comparative Genomics explores six generations of mutation research, providing the background-the people and the ideas---for this biological journey. After exploring Darwin's and Francis Galton's concepts of mutation, Carlson shows how the 1900 rediscovery of Gregor Mendel's experiments let to a discontinuous model of evolution by mutation and how cytological investigations led to the chromosome theory of heredity of classical genetics in which there was random mutation in genes. Carlson details how Mendelian and biometric approaches to heredity and evolution were closely tied and how induction of mutations by radiation and chemical mutagens led to biochemical investigations of gene action, shifting attention to the chemistry of the gene. The interpretation of the gene as DNA and the deciphering of the genetic code then gave rise to molecular interpretations of mutation, views that also impacted evolutionary biology, population genetics, commercial development of plants and animals, and human genetics. This book shows how generational definitions or assessments of mutation have responded to the technologies added to science and the experiments that abounded with the inquiries of each successive generation. These observations are combined with an exploration of how the nonscientific public has shifted its understanding and concern about mutations over the past 150 or more years. Carlson's historical approach in this book-examining the evolution of a concept-reveals the way science works, incrementally by small steps of additions and replacements rather than by dramatic, and rare, paradigm shifts.

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	PCR Mutation Detection Protocols (Methods in Molecular Biology) publisher: Humana Press, published: 2002-04-04 ASIN: 0896036170 EAN: 9780896036178 sales rank: 2259574 1Bimal D. Theophilus and Ralph Rapley provide biological and clinical investigators with a comprehensive collection of new, recent, and updated PCR-based screening methods suitable for detecting the presence of both known and novel mutations. The methods cover point mutations (e.g., ASO-PCR, SSCP, DGGE, chemical cleavage), deletions (multiplex PCR, FISH, blotting), non-sense mutations (PTT), and more. The new and exciting techniques of DNA array analysis, along with such recently developed experimental methods as conformation-sensitive gel electrophoresis, are also included. Each chapter explains the basic theory behind the technique and provides valuable notes essential for its successful execution.
	Bioinformatics for High Throughput Sequencing publisher: Springer, published: 2011-10-25 ASIN: 1461407818 EAN: 9781461407812 sales rank: 625472 Next generation sequencing is revolutionizing molecular biology. Owing to this new technology it is now possible to carry out a panoply of experiments at an unprecedented low cost and high speed. These go from sequencing whole genomes, transcriptomes and small non-coding RNAs to description of methylated regions, identification protein – DNA interaction sites and detection of structural variation. The generation of gigabases of sequence information for each of this huge bandwidth of applications in just a few days makes the development of bioinformatics applications for next generation sequencing data analysis as urgent as challenging.
	Guide to Mutation Detection by: Human Genome Organization (HUGO) publisher: Wiley, published: 2005-02-03 ASIN: 0471234443 EAN: 9780471234449 sales rank: 3048205 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 * Nomenclatures The 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.
	Mouse Phenotypes: A Handbook of Mutation Analysis (Manual) by: Virginia E. Papaioannou publisher: Cold Spring Harbor Laboratory Press, published: 2004-11-01 ASIN: 0879696400 EAN: 9780879696405 sales rank: 1326168 The generation of mutant mice raises many questions about the best means of phenotypic analysis, breeding, and maintenance. The answers are now available from two experts with a wealth of detailed knowledge never previously assembled in one volume. Informal and highly practical, this handbook provides step by step methods for troubleshooting experiments, from the basics of gene targeting through the analysis of postnatal effects.
	Genetic Variance Detection : Technologies for Pharmacogenomics (Nuts & Bolts series) publisher: DNA Press, published: 2006 ASIN: 0974876550 EAN: 9780974876559 sales rank: 3314375 This comprehensive reference for novice students and experienced scientists studying DNA in organisms compares and evaluates the technological choices available in detecting genetic variances in pharmacogenomics. Commonly used technologies such as sequencing, DNA array and chip technologies, mass spectrometry, gel- and chromatography-based technologies, as well as less commonly used methods are described in detail and illustrated with specific examples. Expert advice is presented on technological options to facilitate decisions about the utility and applicability of individual technologies for specific needs.
	Technologies for Detection of DNA Damage and Mutations publisher: Springer, published: 1996-07-31 ASIN: 0306452375 EAN: 9780306452376 sales rank: 2185239 ''Useful and timely.'' ---Mutagenesis ''Of considerable value.'' ---Journal of Medical Genetics ''Quite readable....a comprehensive overview....perfectly covers the needs of those researchers who have to decide on the best strategy to identify damage or mutations at the molecular level.'' ---Trends in Cell Biology ''The formats of the presentations are uniform and ample and up-to-date references are provided at the end of each chapter...will be welcomed by postgraduate researchers of all ages and should retain its usefulness for a long time.'' ---Endeavour, 21(4), 1997 This important resource thoroughly reviews a wide range of techniques used in mutagenesis research-ranging from established techniques to recently developed methodologies-based on the polymerase chain reaction. DNA damage analysis, DNA repair assays, and mutation detection are a few of the techniques featured. Chapters present detailed experimental protocols benefiting researchers and students in the fields of toxicology, biotechniques, molecular biology, photobiology, medical genetics, and oncology.
	Laboratory Methods for the Detection of Mutations and Polymorphisms in DNA by: Graham R. Taylor publisher: CRC Press, published: 1997-01-24 ASIN: 0849392330 EAN: 9780849392337 sales rank: 3953592 The analysis of DNA sequence polymorphisms and mutations is of central importance in understanding biological systems. This book is devoted to the experimental analysis of DNA and presents easy-to-follow protocols. Various techniques from the simple to the highly complex are detailed in this volume, providing a wide spectrum of available methods and practical advice. The methods are described in terms of: History and background Principles and theory Equipment and reagents Protocols Troubleshooting Applications Improvements Results Comparisons with other methods Future prospects and developments This is an essential manual for researchers working in human, animal, or plant molecular genetics and is particularly valuable for hospital and commercial laboratories.
	The Handbook of Plant Mutation Screening: Mining of Natural and Induced Alleles (Molecular Plant Biology) publisher: Wiley-VCH, published: 2010-04-27 ASIN: 3527326049 EAN: 9783527326044 sales rank: 1753878 Induced mutagenesis is a common and promising method for screening for new crops with improved properties. This title introduces the different methods and then focuses on the screening, detection and analysis of the novel mutations. Written by a global team of authors the book is an indispensable tool for all scientists working on crop breeding in industry and academia.
	Principles of Genome Analysis and Genomics by: Sandy B. Primrose publisher: Wiley-Blackwell, published: 2003-01-06 ASIN: 1405101202 EAN: 9781405101202 sales rank: 800576 With the first draft of the human genome project in the public domain and full analyses of model genomes now available, the subject matter of 'Principles of Genome Analysis and Genomics' is even 'hotter' now than when the first two editions were published in 1995 and 1998. In the new edition of this very practical guide to the different techniques and theory behind genomes and genome analysis, Sandy Primrose and new author Richard Twyman provide a fresh look at this topic. In the light of recent exciting advancements in the field, the authors have completely revised and rewritten many parts of the new edition with the addition of five new chapters. Aimed at upper level students, it is essential that in this extremely fast moving topic area the text is up to date and relevant. Completely revised new edition of an established textbook. Features new chapters and examples from exciting new research in genomics, including the human genome project. Excellent new co-author in Richard Twyman, also co-author of the new edition of hugely popular Principles of Gene Manipulation. Accompanying web-page to help students deal with this difficult topic at www.blackwellpublishing.com/primrose
	Mutation: The History of an Idea from Darwin to Genomics by: Elof Axel Carlson publisher: Cold Spring Harbor Laboratory Pr, published: 2011-06-03 ASIN: 1936113309 EAN: 9781936113309 sales rank: 319886 Today, most scientists regard the term "mutation" as a description of a change in an individual gene, and more precisely as some minute alteration of the DNA of that gene, especially a nucleotide substitution. But the idea of mutation has changed considerably from the pre-Mendelian concepts of Darwin's generation, who viewed "fluctuating variations" as the raw material on which evolution acted, to today's up-to-the-minute genomic context of mutation. History of Mutation: From Darwinian Fluctuations to Comparative Genomics explores six generations of mutation research, providing the background-the people and the ideas---for this biological journey. After exploring Darwin's and Francis Galton's concepts of mutation, Carlson shows how the 1900 rediscovery of Gregor Mendel's experiments let to a discontinuous model of evolution by mutation and how cytological investigations led to the chromosome theory of heredity of classical genetics in which there was random mutation in genes. Carlson details how Mendelian and biometric approaches to heredity and evolution were closely tied and how induction of mutations by radiation and chemical mutagens led to biochemical investigations of gene action, shifting attention to the chemistry of the gene. The interpretation of the gene as DNA and the deciphering of the genetic code then gave rise to molecular interpretations of mutation, views that also impacted evolutionary biology, population genetics, commercial development of plants and animals, and human genetics. This book shows how generational definitions or assessments of mutation have responded to the technologies added to science and the experiments that abounded with the inquiries of each successive generation. These observations are combined with an exploration of how the nonscientific public has shifted its understanding and concern about mutations over the past 150 or more years. Carlson's historical approach in this book-examining the evolution of a concept-reveals the way science works, incrementally by small steps of additions and replacements rather than by dramatic, and rare, paradigm shifts.