Автор: Peter D Turnpenny, Sian Ellard, Ruth Cleaver Название: Emery`s Elements of Medical Genetics and Genomics, 16e ISBN: 0702079669 ISBN-13(EAN): 9780702079665 Издательство: Elsevier Science Рейтинг: Цена: 7241.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge.
Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review.
Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics.
Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics
Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures.
Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more.
Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver.
Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Автор: Anthony J.F. Griffiths, John Doebley, Catherine Pe Название: An Introduction to Genetic Analysis ISBN: 1319114776 ISBN-13(EAN): 9781319114770 Издательство: Macmillan Learning Рейтинг: Цена: 15244.00 р. Наличие на складе: Нет в наличии.
Описание: The evolution of a classicThe new 12th edition of Introduction to Genetic Analysis takes this cornerstone textbook to the next level.
Автор: Lupski Название: Genomic Disorders. 2006 ISBN: 1588295591 ISBN-13(EAN): 9781588295590 Издательство: Springer Рейтинг: Цена: 10760.00 р. 15372.00-30% Наличие на складе: Есть (1 шт.) Описание: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Название: Primer to Analysis of Genomic Data Using R ISBN: 331914474X ISBN-13(EAN): 9783319144740 Издательство: Springer Рейтинг: Цена: 7685.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Through this book, researchers and students will learn to use R for analysis of large-scale genomic data and how to create routines to automate analytical steps. The philosophy behind the book is to start with real world raw datasets and perform all the analytical steps needed to reach final results. Though theory plays an important role, this is a practical book for graduate and undergraduate courses in bioinformatics and genomic analysis or for use in lab sessions. How to handle and manage high-throughput genomic data, create automated workflows and speed up analyses in R is also taught. A wide range of R packages useful for working with genomic data are illustrated with practical examples. The key topics covered are association studies, genomic prediction, estimation of population genetic parameters and diversity, gene expression analysis, functional annotation of results using publically available databases and how to work efficiently in R with large genomic datasets. Important principles are demonstrated and illustrated through engaging examples which invite the reader to work with the provided datasets. Some methods that are discussed in this volume include: signatures of selection, population parameters (LD, FST, FIS, etc); use of a genomic relationship matrix for population diversity studies; use of SNP data for parentage testing; snpBLUP and gBLUP for genomic prediction. Step-by-step, all the R code required for a genome-wide association study is shown: starting from raw SNP data, how to build databases to handle and manage the data, quality control and filtering measures, association testing and evaluation of results, through to identification and functional annotation of candidate genes. Similarly, gene expression analyses are shown using microarray and RNAseq data. At a time when genomic data is decidedly big, the skills from this book are critical. In recent years R has become the de facto< tool for analysis of gene expression data, in addition to its prominent role in analysis of genomic data. Benefits to using R include the integrated development environment for analysis, flexibility and control of the analytic workflow. Included topics are core components of advanced undergraduate and graduate classes in bioinformatics, genomics and statistical genetics. This book is also designed to be used by students in computer science and statistics who want to learn the practical aspects of genomic analysis without delving into algorithmic details. The datasets used throughout the book may be downloaded from the publisher’s website.
Автор: Meena Balasubramanian Название: Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta ISBN: 1615047441 ISBN-13(EAN): 9781615047444 Издательство: Mare Nostrum (Eurospan) Рейтинг: Цена: 3762.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Osteogenesis imperfecta (OI) is a disease encompassing a group of disorders mainly characterized by bone fragility and is the commonest form of heritable bone fragility. In this book, the clinical presentations with particular emphasis on rare phenotypes associated with OI are discussed together with molecular advances in diagnosis and treatment of OI.
Автор: Reena Das, Prashant Sharma Название: Molecular Genetics of Thalassemia Syndromes ISBN: 1615047247 ISBN-13(EAN): 9781615047246 Издательство: Mare Nostrum (Eurospan) Рейтинг: Цена: 3762.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Reviews the molecular genetics of the thalassemia syndromes, inherited hemoglobin disorders that comprise the commonest monogenic disorders globally. Thalassemias are found in high frequencies in tropical regions corresponding to the malaria belt.
Автор: Ramaswamy Govindan, Siddhartha Devarakonda Название: Cancer genomics for the clinician ISBN: 0826168671 ISBN-13(EAN): 9780826168672 Издательство: Mare Nostrum (Eurospan) Рейтинг: Цена: 7484.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: A practical guide to cancer genomics and its application to cancer diagnosis and care. Each chapter provides explanations of concepts, terminology, and methods. Also included are tips for interpreting and analysing molecular data, and discussion of molecular predictors for targeted therapies covering haematologic malignancies and solid tumours.
Автор: Andrew Ward Название: Genomic Imprinting ISBN: 1617371645 ISBN-13(EAN): 9781617371646 Издательство: Springer Рейтинг: Цена: 20263.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Further mouse genetic studies, involving animals carrying balanced translocations (reviewed in Chapter 3), indicated that imprinted genes were likely to be widely scattered and would form a minority within the mammalian genome.
Автор: Jon F. Wilkins Название: Genomic Imprinting ISBN: 0387775757 ISBN-13(EAN): 9780387775753 Издательство: Springer Рейтинг: Цена: 23508.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: The goal of this book is neither to provide a basic introduction to imprinting, nor to provide a comprehensive survey of the current state of the field. Genomic imprinting refers to a recently discovered phenomenon in which the expression pattern of an allele depends on whether that allele was inherited from the mother or the father.
Автор: Lars Feuk Название: Genomic Structural Variants ISBN: 1493961896 ISBN-13(EAN): 9781493961894 Издательство: Springer Рейтинг: Цена: 20263.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: This book reviews progress in the understanding of structural genetic variation and its implications for human disease, from the introduction of microarrays to current sequencing strategies. Covers major research and diagnostic technologies, and more.
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