The Bioinformatic Analysis Of A Bacterial Artificial Chromosome Model For Molecular Diagnostics Of Contiguous Gene Syndromes
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| Author | : Dawn R. Maghakian |
| Publisher | : |
| Total Pages | : 326 |
| Release | : 2005 |
| Genre | : Bacterial artificial chromosomes |
| ISBN | : |
"The mapping of the human genome has advanced our ability to study, diagnose, and treat genetic disease - resulting in a molecular diagnostic revolution in medicine. One of the most promising new diagnostic tools now available is comparative genome hybridization by microarray (array-CGH). Array-CGH provides the advantage of a greater diagnostic sensitivity than can be achieved by conventional fluorescent in situ hybridization (FISH) analysis on a genome-wide scale. In this study we have used a bioinformatics approach to analyze human DNA sequences contained in bacterial artificial chromosome (BAC) clones across the entire human genome. Additionally, BAC clones spanning four diagnostically significant genomic regions implicated in contiguous gene syndromes (CGS) have been localized to the genome by correlation between two of the major human genome resources, The National Center for Biotechnology Information (NCBI), and the University of California Santa Cruz Human Genome Browser (UCSC). The goal of this project is to provide a method of in silico sequence validation that is both rapid and cost-effective as a screening tool for the selection of hybridization target and array-CGH design. Ultimately our total human genome BAC clone model and validation method will provide the scaffold from which human DNA sequences may be selected for final FISH validation, and utilization in a total human genome array-CGH design for the diagnosis of cryptic genomic aberrations"--Document.
| Author | : Swarup Kumar Chakrabarti |
| Publisher | : Springer |
| Total Pages | : 332 |
| Release | : 2017-12-26 |
| Genre | : Science |
| ISBN | : 3319661353 |
This book describes the historical importance of potato (Solanum tuberosum L.),potato genetic resources and stocks (including S. tuberosum group Phureja DM1-3 516 R44, a unique doubled monoploid homozygous line) used for potato genome sequencing. It also discusses strategies and tools for high-throughput sequencing, sequence assembly, annotation, analysis, repetitive sequences and genotyping-by-sequencing approaches. Potato (Solanum tuberosum L.; 2n = 4x = 48) is the fourth most important food crop of the world after rice, wheat and maize and holds great potential to ensure both food and nutritional security. It is an autotetraploid crop with complex genetics, acute inbreeding depression and a highly heterozygous nature. Further, the book examines the recent discovery of whole genome sequencing of a few wild potato species genomes, genomics in management and genetic enhancement of Solanum species, new strategies towards durable potato late blight resistance, structural analysis of resistance genes, genomics resources for abiotic stress management, as well as somatic cell genetics and modern approaches in true-potato-seed technology. The complete genome sequence provides a better understanding of potato biology, underpinning evolutionary process, genetics, breeding and molecular efforts to improve various important traits involved in potato growth and development.
| Author | : Supratim Choudhuri |
| Publisher | : Elsevier |
| Total Pages | : 238 |
| Release | : 2014-05-09 |
| Genre | : Science |
| ISBN | : 0124105106 |
Bioinformatics for Beginners: Genes, Genomes, Molecular Evolution, Databases and Analytical Tools provides a coherent and friendly treatment of bioinformatics for any student or scientist within biology who has not routinely performed bioinformatic analysis. The book discusses the relevant principles needed to understand the theoretical underpinnings of bioinformatic analysis and demonstrates, with examples, targeted analysis using freely available web-based software and publicly available databases. Eschewing non-essential information, the work focuses on principles and hands-on analysis, also pointing to further study options. - Avoids non-essential coverage, yet fully describes the field for beginners - Explains the molecular basis of evolution to place bioinformatic analysis in biological context - Provides useful links to the vast resource of publicly available bioinformatic databases and analysis tools - Contains over 100 figures that aid in concept discovery and illustration
| Author | : Eugene V. Koonin |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 482 |
| Release | : 2013-06-29 |
| Genre | : Science |
| ISBN | : 1475737831 |
Sequence - Evolution - Function is an introduction to the computational approaches that play a critical role in the emerging new branch of biology known as functional genomics. The book provides the reader with an understanding of the principles and approaches of functional genomics and of the potential and limitations of computational and experimental approaches to genome analysis. Sequence - Evolution - Function should help bridge the "digital divide" between biologists and computer scientists, allowing biologists to better grasp the peculiarities of the emerging field of Genome Biology and to learn how to benefit from the enormous amount of sequence data available in the public databases. The book is non-technical with respect to the computer methods for genome analysis and discusses these methods from the user's viewpoint, without addressing mathematical and algorithmic details. Prior practical familiarity with the basic methods for sequence analysis is a major advantage, but a reader without such experience will be able to use the book as an introduction to these methods. This book is perfect for introductory level courses in computational methods for comparative and functional genomics.
| Author | : Peter Hu |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 428 |
| Release | : 2012-05-11 |
| Genre | : Medical |
| ISBN | : 1461421705 |
This timely book covers the need to know clinical practices for all those involved in molecular laboratory science. The field of molecular medicine is evolving at an astounding speed. Propelled by the new insights and technologies, advances are being made at an unprecedented rate. With dual measure given to today’s breakthroughs, this book is a collection of the most current practices relevant to the clinical molecular laboratorian. It begins with an introductory section on techniques and procedure. It then presents four separate sections on infectious disease, oncology, pre/post-natal, and identity testing, with specific chapters clearly outlining clinical protocols used in daily practice. Modern Clinical Molecular Techniques cuts to the heart of what is essential for the practicing molecular laboratory scientist. It is an outstanding resource for those operating within or looking to set up a clinical molecular laboratory.
| Author | : David Posada |
| Publisher | : Humana Press |
| Total Pages | : 354 |
| Release | : 2009-05-07 |
| Genre | : Science |
| ISBN | : 9781588299109 |
The recent accumulation of information from genomes, including their sequences, has resultednotonlyinnewattemptstoansweroldquestionsandsolvelongstandingissues inbiology,butalsointheformulationofnovelhypothesesthatarisepreciselyfromthis wealth of data. The storage, processing, description, transmission, connection, and analysis of these data has prompted bioinformatics to become one the most relevant applied sciences for this new century, walking hand-in-hand with modern molecular biology and clearly impacting areas like biotechnology and biomedicine. Bioinformatics skills have now become essential for many scientists working with DNA sequences. With this idea in mind, this book aims to provide practical guidance andtroubleshootingadviceforthecomputationalanalysisofDNAsequences,covering a range of issues and methods that unveil the multitude of applications and relevance that Bioinformatics has today. The analysis of protein sequences has been purposely excludedtogainfocus.Individualbookchaptersareorientedtowardthedescriptionof theuseofspecificbioinformaticstools,accompaniedbypracticalexamples,adiscussion on the interpretation of results, and specific comments on strengths and limitations of the methods and tools. In a sense, chapters could be seen as enriched task-oriented manuals that will direct the reader in completing specific bioinformatics analyses. The target audience for this book is biochemists, and molecular and evolutionary biologiststhatwanttolearnhowtoanalyzeDNAsequencesinasimplebutmeaningful fashion. Readers do not need a special background in statistics, mathematics, or computer science, just a basic knowledge of molecular biology and genetics. All the tools described in the book are free and all of them can be downloaded or accessed throughtheweb.Mostchapterscouldbeusedforpracticaladvancedundergraduateor graduate-level courses in bioinformatics and molecular evolution.
| Author | : Paul Shaw |
| Publisher | : Cambridge University Press |
| Total Pages | : 434 |
| Release | : 2013-10-24 |
| Genre | : Medical |
| ISBN | : 1107435617 |
The first comprehensive book on the subject, The Genetic Basis of Sleep and Sleep Disorders covers detailed reviews of the general principles of genetics and genetic techniques in the study of sleep and sleep disorders. The book contains sections on the genetics of circadian rhythms, of normal sleep and wake states and of sleep homeostasis. There are also sections discussing the role of genetics in the understanding of insomnias, hypersomnias including narcolepsy, parasomnias and sleep-related movement disorders. The final chapter highlights the use of gene therapy in sleep disorders. Written by genetic experts and sleep specialists from around the world, the book is up to date and geared specifically to the needs of both researchers and clinicians with an interest in sleep medicine. This book will be an invaluable resource for sleep specialists, neurologists, geneticists, psychiatrists and psychologists.
| Author | : James D Clelland |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 598 |
| Release | : 2010-12-03 |
| Genre | : Medical |
| ISBN | : 1441971971 |
This newest volume of Advances in Neurobiology discusses the utilization of genomic and proteomic technologies, to address facets of neurobiology including development and epigenetic regulation, functions in learning and memory, and changes associated with neurological and psychiatric disorders.
| Author | : Vishvanath Nene |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 253 |
| Release | : 2008-11-24 |
| Genre | : Science |
| ISBN | : 3540740422 |
Achievements and progress in genome mapping and the genomics of microbes supersede by far those for higher plants and animals, in part due to their enormous economic implication but also smaller genome size. In the post-genomic era, whole genome sequences of animal-associated microbes are providing clues to depicting the genetic basis of the complex host-pathogen relationships and the evolution of parasitism; and to improving methods of controlling pathogens. This volume focuses on a globally important group of intracellular prokaryotic pathogens which affect livestock animals. These include Brucella, Mycobacterium, Anaplasma and Ehrlichia, as well as the protozoan pathogens Cryptosporidium and Theileria, for which genome sequence data is available. Insights from comparative genomics of the microbes described provide clues to the adaptation involved in host-microbe interactions, as well as resources potentially useful for application in future research and product development.
| Author | : Bryan P. Bergeron |
| Publisher | : Prentice Hall Professional |
| Total Pages | : 472 |
| Release | : 2003 |
| Genre | : Computers |
| ISBN | : 9780131008250 |
Comprehensive and concise, this handbook has chapters on computing visualization, large database designs, advanced pattern matching and other key bioinformatics techniques. It is a practical guide to computing in the growing field of Bioinformatics--the study of how information is represented and transmitted in biological systems, starting at the molecular level.
