Download or read book Bioinformatics Strategies for Disease Gene Identification written by Markus Antoine Driel and published by . This book was released on 2005 with total page 160 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Bioinformatics for Diagnosis Prognosis and Treatment of Complex Diseases written by Bairong Shen and published by Springer Science & Business Media. This book was released on 2013-11-25 with total page 219 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book introduces the bioinformatics tools, databases and strategies for the translational research, focuses on the biomarker discovery based on integrative data analysis and systems biological network reconstruction. With the coming of personal genomics era, the biomedical data will be accumulated fast and then it will become reality for the personalized and accurate diagnosis, prognosis and treatment of complex diseases. The book covers both state of the art of bioinformatics methodologies and the examples for the identification of simple or network biomarkers. In addition, bioinformatics software tools and scripts are provided to the practical application in the study of complex diseases. The present state, the future challenges and perspectives were discussed. The book is written for biologists, biomedical informatics scientists and clinicians, etc. Dr. Bairong Shen is Professor and Director of Center for Systems Biology, Soochow University; he is also Director of Taicang Center for Translational Bioinformatics.

Download or read book Disease Gene Identification written by Johanna K. DiStefano and published by Humana Press. This book was released on 2011-01-10 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent efforts to characterize genetic variation in the human genome, coupled with the rapidly developing field of genomics, have lead directly to the development of new and innovative approaches to the identification of genes contributing to complex human diseases. In Disease Gene Identification: Methods and Protocols, expert researchers in the field provide up-to-date molecular methodologies used in the process of identifying a disease gene, from the initial stage of study design to the next stage of preliminary locus identification, and ending with stages involved in target characterization and validation. As a volume in the highly successful Methods in Molecular BiologyTM series, chapters contain brief introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and detailed tips on troubleshooting and avoiding known pitfalls. Authoritative and essential, Disease Gene Identification: Methods and Protocols seeks to aid scientists striving toward the identification and characterization of the many disease-related genes, which may someday pave the way for more accurate and improved methods of disease diagnosis as well as vital strategies for disease treatment and prevention.

Download or read book Gene Discovery for Disease Models written by Weikuan Gu and published by John Wiley & Sons. This book was released on 2011-03-03 with total page 642 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides readers with new paradigms on the mutation discovery in the post-genome era. The completion of human and other genome sequencing, along with other new technologies, such as mutation analysis and microarray, has dramatically accelerated the progress in positional cloning of genes from mutated models. In 2002, the Mouse Genome Sequencing Consortium stated that “The availability of an annotated mouse genome sequence now provides the most efficient tool yet in the gene hunter's toolkit. One can move directly from genetic mapping to identification of candidate genes, and the experimental process is reduced to PCR amplification and sequencing of exons and other conserved elements in the candidate interval. With this streamlined protocol, it is anticipated that many decades-old mouse mutants will be understood precisely at the DNA level in the near future.” The implication of such a statement should be similar to the identification of mutated genes from human diseases and animal models, when genome sequencing is completed for them. More than five years have passed, but genes in many human diseases and animal models have not yet been identified. In some cases, the identification of the mutated genes has been a bottleneck, because the genetic mechanism holds the key to understand the basis of the diseases. However, an integrative strategy, which is a combination of genetic mapping, genome resources, bioinformatics tools, and high throughput technologies, has been developed and tested. The classic paradigm of positional cloning has evolved with completely new concepts of genomic cloning and protocols. This book describes new concepts of gene discovery in the post-genome era and the use of streamlined protocols to identify genes of interest. This book helps identify not only large insertions/deletions but also single nucleotide mutations or polymorphisms that regulate quantitative trait loci (QTL).

Download or read book Tumor Microenvironment and Cellular Stress written by Constantinos Koumenis and published by Springer Science & Business Media. This book was released on 2013-11-23 with total page 293 pages. Available in PDF, EPUB and Kindle. Book excerpt: The collection of chapters in this proceeding volume reflects the latest research presented at the Aegean meeting on Tumor Microenvironment and Cellular Stress held in Crete in Fall of 2012. The book provides critical insight to how the tumor microenvironment affects tumor metabolism, cell stemness, cell viability, genomic instability and more. Additional topics include identifying common pathways that are potential candidates for therapeutic intervention, which will stimulate collaboration between groups that are more focused on elucidation of biochemical aspects of stress biology and groups that study the pathophysiological aspects of stress pathways or engaged in drug discovery.

Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians

Download or read book Evolution of Translational Omics written by Institute of Medicine and published by National Academies Press. This book was released on 2012-09-13 with total page 354 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.

Download or read book Biological Sequence Analysis written by Richard Durbin and published by Cambridge University Press. This book was released on 1998-04-23 with total page 372 pages. Available in PDF, EPUB and Kindle. Book excerpt: Probabilistic models are becoming increasingly important in analysing the huge amount of data being produced by large-scale DNA-sequencing efforts such as the Human Genome Project. For example, hidden Markov models are used for analysing biological sequences, linguistic-grammar-based probabilistic models for identifying RNA secondary structure, and probabilistic evolutionary models for inferring phylogenies of sequences from different organisms. This book gives a unified, up-to-date and self-contained account, with a Bayesian slant, of such methods, and more generally to probabilistic methods of sequence analysis. Written by an interdisciplinary team of authors, it aims to be accessible to molecular biologists, computer scientists, and mathematicians with no formal knowledge of the other fields, and at the same time present the state-of-the-art in this new and highly important field.

Download or read book Transcriptomics in Health and Disease written by Geraldo A. Passos and published by Springer. This book was released on 2022-04-08 with total page 474 pages. Available in PDF, EPUB and Kindle. Book excerpt: The study of transcriptomics is key to understanding complex diseases. This new edition will build on the foundation of the first edition while incorporating the progress that has been made in the field of transcriptomics in the past six years, including bioinformatics for data analysis. Written by leading experts, chapters address new subjects such as methodological advances in large-scale sequencing, the sequencing of single-cells, and spatial transcriptomics. The new edition will address how transcriptomics may be used in combination with genetic strategies to identify causative genes in monogenic and complex genetic diseases. Coverage will also explore transcriptomics in challenging groups of diseases, such as cancer, inflammation, bacterial infection, and autoimmune diseases. The updated volume will be useful for geneticists, genome biologists, biomedical researchers, molecular biologists, bioinformaticians, and students, among others.

Download or read book Bioinformatics written by Andreas D. Baxevanis and published by John Wiley & Sons. This book was released on 2004-03-24 with total page 504 pages. Available in PDF, EPUB and Kindle. Book excerpt: "In this book, Andy Baxevanis and Francis Ouellette . . . haveundertaken the difficult task of organizing the knowledge in thisfield in a logical progression and presenting it in a digestibleform. And they have done an excellent job. This fine text will makea major impact on biological research and, in turn, on progress inbiomedicine. We are all in their debt." —Eric Lander from the Foreword Reviews from the First Edition "...provides a broad overview of the basic tools for sequenceanalysis ... For biologists approaching this subject for the firsttime, it will be a very useful handbook to keep on the shelf afterthe first reading, close to the computer." —Nature Structural Biology "...should be in the personal library of any biologist who usesthe Internet for the analysis of DNA and protein sequencedata." —Science "...a wonderful primer designed to navigate the novice throughthe intricacies of in scripto analysis ... The accomplished genesearcher will also find this book a useful addition to theirlibrary ... an excellent reference to the principles ofbioinformatics." —Trends in Biochemical Sciences This new edition of the highly successful Bioinformatics:A Practical Guide to the Analysis of Genes and Proteinsprovides a sound foundation of basic concepts, with practicaldiscussions and comparisons of both computational tools anddatabases relevant to biological research. Equipping biologists with the modern tools necessary to solvepractical problems in sequence data analysis, the Second Editioncovers the broad spectrum of topics in bioinformatics, ranging fromInternet concepts to predictive algorithms used on sequence,structure, and expression data. With chapters written by experts inthe field, this up-to-date reference thoroughly covers vitalconcepts and is appropriate for both the novice and the experiencedpractitioner. Written in clear, simple language, the book isaccessible to users without an advanced mathematical or computerscience background. This new edition includes: All new end-of-chapter Web resources, bibliographies, andproblem sets Accompanying Web site containing the answers to the problems,as well as links to relevant Web resources New coverage of comparative genomics, large-scale genomeanalysis, sequence assembly, and expressed sequence tags A glossary of commonly used terms in bioinformatics andgenomics Bioinformatics: A Practical Guide to the Analysis of Genesand Proteins, Second Edition is essential reading forresearchers, instructors, and students of all levels in molecularbiology and bioinformatics, as well as for investigators involvedin genomics, positional cloning, clinical research, andcomputational biology.

Download or read book Bioinformatics for Geneticists written by Michael R. Barnes and published by John Wiley & Sons. This book was released on 2003-07-01 with total page 432 pages. Available in PDF, EPUB and Kindle. Book excerpt: This timely book illustrates the value of bioinformatics, not simply as a set of tools but rather as a science increasingly essential to navigate and manage the host of information generated by genomics and the availability of completely sequenced genomes. Bioinformatics can be used at all stages of genetics research: to improve study design, to assist in candidate gene identification, to aid data interpretation and management and to shed light on the molecular pathology of disease-causing mutations. Written specifically for geneticists, this book explains the relevance of bioinformatics showing how it may be used to enhance genetic data mining and markedly improve genetic analysis.

Download or read book Bioinformatics for Geneticists written by Michael R. Barnes and published by Wiley Chichester. This book was released on 2007-04-16 with total page 838 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bioinformatics for geneticists describes the key bioinformatics and genetic analysis processes that are needed to identify human genetic determinants. Including SNP functional analysis and statistical genetics.

Download or read book Encyclopedia of Basic Epilepsy Research written by and published by Academic Press. This book was released on 2009-05-27 with total page 1853 pages. Available in PDF, EPUB and Kindle. Book excerpt: As a truly translational area of biomedical investigation, epilepsy research spans an extraordinary breadth of subjects and involves virtually every tool that modern neuroscience has at its disposal. The Encyclopedia of Basic Epilepsy Research provides an up to date, comprehensive reference for all epilepsy researchers. With an expert list of authors, the encyclopedia covers the full spectrum of research activities from genes and molecules to animal models and human patients. The encyclopedia's electronic format also provides unparalleled access to frequent updates and additions, while the limited edition print version provides another option for owning this content. The Encyclopedia of Basic Epilepsy Research is an essential resource for researchers of all levels and clinicians who study epilepsy. The only comprehensive reference for basic research and current activities in epilepsy Electronic format provides fast and easy access to updates and additions, with limited print version available as well Contains over 85 articles, all written by experts in epilepsy research

Download or read book Bioinformatics written by Andreas D. Baxevanis and published by Wiley-Interscience. This book was released on 2005 with total page 568 pages. Available in PDF, EPUB and Kindle. Book excerpt: Reviews of the Second Edition "In this book, Andy Baxevanis and Francis Ouellette . . . have undertaken the difficult task of organizing the knowledge in this field in a logical progression and presenting it in a digestible form. And they have done an excellent job. This fine text will make a major impact on biological research and, in turn, on progress in biomedicine. We are all in their debt." —Eric Lander, from the Foreword to the Second Edition "The editors and the chapter authors of this book are to be applauded for providing biologists with lucid and comprehensive descriptions of essential topics in bioinformatics. This book is easy to read, highly informative, and certainly timely. It is most highly recommended for students and for established investigators alike, for anyone who needs to know how to access and use the information derived in and from genomic sequencing projects." —Trends in Genetics "It is an excellent general bioinformatics text and reference, perhaps even the best currently available . . . Congratulations to the authors, editors, and publisher for producing a weighty, authoritative, readable, and attractive book." —Briefings in Bioinformatics "This book, written by the top scientists in the field of bioinformatics, is the perfect choice for every molecular biology laboratory." —The Quarterly Review of Biology This fully revised version of a world-renowned bestseller provides readers with a practical guide covering the full scope of key concepts in bioinformatics, from databases to predictive and comparative algorithms. Using relevant biological examples, the book provides background on and strategies for using many of the most powerful and commonly used computational approaches for biological discovery. This Third Edition reinforces key concepts that have stood the test of time while making the reader aware of new and important developments in this fast-moving field. With a new full-color and enlarged page design, Bioinformatics, Third Edition offers the most readable, up-to-date, and thorough introduction to the field for biologists. This new edition features: New chapters on genomic databases, predictive methods using RNA sequences, sequence polymorphisms, protein structure prediction, intermolecular interactions, and proteomic approaches for protein identification Detailed worked examples illustrating the strategic use of the concepts presented in each chapter, along with a collection of expanded, more rigorous problem sets suitable for classroom use Special topic boxes and appendices highlighting experimental strategies and advanced concepts Annotated reference lists, comprehensive lists of relevant Web resources, and an extensive glossary of commonly used terms in bioinformatics, genomics, and proteomics Bioinformatics, Third Edition is essential reading for researchers, instructors, and students of all levels in molecular biology and bioinformatics, as well as for investigators involved in genomics, clinical research, proteomics, and computational biology. www.wiley.com/bioinformatics

Download or read book Computational Genetic and Bioinformatic Strategies to Identify Modifiers for Age at Onset in Huntington s Disease written by Jian-Liang Li and published by . This book was released on 2006 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt: Abstract: Huntington's disease (HD) is a neurodegenerative disorder caused by an unstable CAG repeat in the huntingtin ( htt ) gene on 4p16.3. While the variation in age at onset (AO) is partly explained by the size of the expanded repeat, the unexplained variation in AO is strongly heritable ( h 2 =0.70) which suggests that other genes modify AO. Therefore, the objective of this dissertation was to identify the modifier genes that regulate AO, with the long-term goal of gaining a better understanding of the pathogenesis and progression of HD. To achieve this aim, a novel strategy was developed by integrating computational genetics and bioinformatics to discover genes that might modify AO. First, a genome-wide scan in 629 affected siblings was performed to identify the potential modifier loci using AO adjusted for the expanded and normal CAG repeats as a quantitative trait. Two novel statistical approaches for correcting estimates of allele sharing identity by descent (IBD) at and around the susceptibility locus were developed to validate the linkage near the HD locus. Our analyses indicated suggestive evidence for linkage at 4p16 (LOD=1.93), 6p21-23 (LOD=2.29), and 6q24-26 (LOD=2.28). A replication dataset was subsequently analyzed to confirm the linkage loci identified by the genome-wide scan, and two-locus epistasis modeling was performed to explore potential interactions between linkage regions. Our replication data confirmed evidence for linkage to genetic modifier(s) of AO at 6q23-24. A translational approach was then developed to identify and prioritize candidate genes by integrating ' omic ' data, and 10 candidate genes were selected for further SNP genotyping and association studies to discover true modifiers for AO. Two statistical methods including the Family-Based Association Test (FBAT) and Generalized Estimating Equations (GEE) were implemented to investigate the association between candidate genes and AO in HD. Our studies indicated that two SNPs (rs7661351 in D4S234E and rs1075427 in SGK ) were significantly associated with adjusted AO. Notably, the associations were strongest in those sibships exhibiting evidence for linkage to this region. In summary, our studies demonstrate the feasibility of our novel strategy to identify gene modifiers for AO in HD and such studies may provide significant insight into the pathology of disease expression and possible novel treatments to delay disease onset.

Download or read book Genomics of Disease written by J.P. Gustafson and published by Springer Science & Business Media. This book was released on 2008-02-12 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt: This title develops from the 24th Stadler symposium. It explores the general theme "GENOME EXPLOITATION: Data Mining the Genomes". The idea behind the theme is to discuss and illustrate how scientists are going to characterize and make use of the massive amount of information being accumulated about plant and animal genomes. The book presents a state-of-the-art picture on mining the Genome databases. Its chapters are authored by key stars in the field.

Download or read book Computational Exome and Genome Analysis written by Peter N. Robinson and published by CRC Press. This book was released on 2017-09-13 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt: Exome and genome sequencing are revolutionizing medical research and diagnostics, but the computational analysis of the data has become an extremely heterogeneous and often challenging area of bioinformatics. Computational Exome and Genome Analysis provides a practical introduction to all of the major areas in the field, enabling readers to develop a comprehensive understanding of the sequencing process and the entire computational analysis pipeline.