Human Molecular Genetics is an established and class-proven textbook for upper-level undergraduates and graduate students which provides an authoritative and integrated approach to the molecular aspects of human genetics. While maintaining the hallmark features of previous editions, the Fourth Edition has been completely updated. It includes new Key Concepts at the beginning of each chapter and annotated further reading at the conclusion of each chapter, to help readers navigate the wealth of information in this subject. The text has been restructured so genomic technologies are integrated throughout, and next generation sequencing is included. Genetic testing, screening, approaches to therapy, personalized medicine, and disease models have been brought together in one section. Coverage of cell biology including stem cells and cell therapy, studying gene function and structure, comparative genomics, model organisms, noncoding RNAs and their functions, and epigenetics have all been expanded.

Extraordinary advances have been made in the field of human molecular genetics during the past five years. The ability to amplify a specific region ofDNA a millionfold in a few hours using the polymerase chain reaction has led to the rapid identification of mutations in human disease and of DNA sequence polymorphisms on every human chro- some. DNA fragments of up to 1 megabase in length can now be resolved by pulsed-field gel electrophoresis to create long-range physical maps of important regions of the genome, and can be cloned in the form of yeast artificial chromosomes. The discovery of highly variable "minisatellite" DNA sequences has led to the development of DNA fingerprinting. The application of these techniques to the study of the human genome has culminated in major advances such as the cloning of the cystic fibrosis gene, the construction of genetic linkage maps of each human chro- some, the mapping of many genes responsible for human inherited d- orders, genetic fingerprinting of forensic specimens, and the detection of mutations involved in the development of human tumors. Although many of the new techniques in molecular genetics can be learned relatively easily, it is often difficult for a researcher to obtain all of the relevant information necessary for getting up a technique and applying it successfully. The information available in the research lite- ture often lacks the depth of description that the new user requires.

An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries. Using a unique, systems-based approach, the text offers readers a thorough explanation of the gene discovery process and how defective genes are linked to inherited disease states in major organ and tissue systems. All the latest developments in functional genomics, proteomics, and microarray technology have been thoroughly incorporated into the text. The first part of the text introduces readers to the fundamentals of cytogenetics and Mendelian genetics. Next, techniques and strategies for gene manipulation, mapping, and isolation are examined. Readers will particularly appreciate the text's exceptionally thorough and clear explanation of genetic mapping. The final part features unique coverage of the molecular genetics of distinct biological systems, covering muscle, neurological, eye, cancer, and mitochondrial disorders. Throughout the text, helpful figures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text's same lucid and engaging style, and will find a wealth of new and expanded material that brings them fully up to date with a current understanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting, and human population genetics * Expanded and fully revised section on clinical genetics, covering diagnostic testing, molecular screening, and various treatments This text is targeted at upper-level undergraduate students, graduate students, and medical students. It is also an excellent reference for researchers and physicians who need a clinically relevant reference for the molecular genetics of inherited human diseases.

Human Molecular Genetics is an established and class-proven textbook for upper-level undergraduates and graduate students which provides an authoritative and integrated approach to the molecular aspects of human genetics. While maintaining the hallmark features of previous editions, the Fourth Edition has been completely updated. It includes new Key Concepts at the beginning of each chapter and annotated further reading at the conclusion of each chapter, to help readers navigate the wealth of information in this subject. The text has been restructured so genomic technologies are integrated throughout, and next generation sequencing is included. Genetic testing, screening, approaches to therapy, personalized medicine, and disease models have been brought together in one section. Coverage of cell biology including stem cells and cell therapy, studying gene function and structure, comparative genomics, model organisms, noncoding RNAs and their functions, and epigenetics have all been expanded.

Human Molecular Genetics 2 Tom Strachan & Andrew P. Read "truly a Rolls Royce amongst textbooks" — Molecular Medicine Today "the best text to introduce students and scientists to the molecular aspects of human genetics" — Trends in Genetics "a beautifully crafted book" — Journal of Medical Genetics "addresses the gap between introductory textbooks and the primary literature. There’s no other textbook quite like it." — Nature Now extensively rewritten and updated, HMG2 guides students and researchers through the very latest developments in the most rapidly changing area of life science. The highly regarded structure of the bestselling first edition is retained, but a wealth of new data and features have been added to aid understanding of the principles of human molecular genetics: new material on cell types and the cell cycle, signal transduction, DNA mutation repair, and comparative genomics and evolution new material on recent advances in the study of gene expression and function, including the use of DNA microarrays the latest Genome Project data including an assessment of the impact of complete genome sequences and new approaches in functional genomics expanded coverage of common disease susceptibility new section on how best to obtain the latest data from web-based resources a range of new figures, with many more in full color the early use of hierarchical figures and flow charts to introduce principles described fully in later chapters new two-column layout to improve clarity further references systematically updated HMG2 is the book of choice for readers requiring an authoritative and integrated approach to human genetics.

This work provides guidance on the principles underlying modern human molecular genetics. This new edition has been updated to take account of the changes in our understanding of this field since the late 1990s.

This is a concise overview of a complex and fast moving field. The text explains amongst many things the special problems encountered in human genome analysis. Boxed case studies are incorporated to help student comprehension of this topic.

An Introduction to Human Molecular Genetics Second Edition Jack J. Pasternak The Second Edition of this internationally acclaimed text expandsits coverage of the molecular genetics of inherited human diseaseswith the latest research findings and discoveries. Using a unique,systems-based approach, the text offers readers a thoroughexplanation of the gene discovery process and how defective genesare linked to inherited disease states in major organ and tissuesystems. All the latest developments in functional genomics,proteomics, and microarray technology have been thoroughlyincorporated into the text. The first part of the text introduces readers to the fundamentalsof cytogenetics and Mendelian genetics. Next, techniques andstrategies for gene manipulation, mapping, and isolation areexamined. Readers will particularly appreciate the text'sexceptionally thorough and clear explanation of genetic mapping.The final part features unique coverage of the molecular geneticsof distinct biological systems, covering muscle, neurological, eye,cancer, and mitochondrial disorders. Throughout the text, helpfulfigures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text'ssame lucid and engaging style, and will find a wealth of new andexpanded material that brings them fully up to date with a currentunderstanding of the field, including: * New chapters on complex genetic disorders, genomic imprinting,and human population genetics * Expanded and fully revised section on clinical genetics, coveringdiagnostic testing, molecular screening, and varioustreatments This text is targeted at upper-level undergraduate students,graduate students, and medical students. It is also an excellentreference for researchers and physicians who need a clinicallyrelevant reference for the molecular genetics of inherited humandiseases.

This volume explores the new era of study made possible by the electrifying pace of discovery and innovation in the field of molecular genetics. Questioning, critical, and strong on methodological principles, this volume reflects the point of view of its 35 distinguished contributors.

This second edition of Human Molecular Genetics continues to provide a clear introduction to this complex and fast moving field. Now updated and revised throughout, the material covered has been carefully selected and structured to provide a concise overview for students studying the subject as part of a general biology, genetics or medical degree. A milestone in science has been reached through the publication of draft sequences of the human genome and this is reflected in changes to the book. A new chapter details the methodology used, what was revealed about genome structure and evolution and how the genome sequence will be exploited in diagnosing and treating common diseases. The chapter on complex diseases has also been completely rewritten to reflect new strategies for searching for the genes involved in such disorders. Finally, the human genome project has opened up new prospects in population genetics and evolution and these are discussed in a rewritten chapter. Features * Concise, up-to-date introduction to the subject * "New "chapters on sequencing and structure of the human genome* "New "chapter on complex disorders, including population surveys using SNPs * "Fully revised" chapter on human population genetics and evolution* Boxed case studies and techniques * Includes important genetic disorders and genetic counselling * References updated through a linked Web site. The text is aimed at courses in Human Genetics, Human Molecular Genetics and The Molecular Basis of Disease taught within Biology, Biochemistry, Biomolecular Sciences, Biomedical Sciences, Genetics and medical and other health-care degrees. Peter Sudbery is Senior Lecturer in Genetics at the Department of Molecular Biology and Biotechnology at the University of Sheffield. "The Cell and Molecular Biology series provides introductions to key, exciting areas of cell and molecular biology, stimulating student's imaginations and initiative to bridge the gap between memorising concepts and the active approach needed for research and literature review projects. This active learning series also introduces students to experimental design and information retrieval and analysis, including exploration of the World Wide Web."