Download or read book The Human Gene Mutation Database HGMD written by and published by . This book was released on 1997 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: The human gene mutation database comprises various types of mutation within the coding regions of human nuclear genes causing inherited disease.
Download or read book Human Gene Mutation written by David N. Cooper and published by Taylor & Francis. This book was released on 1995 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.
Download or read book Human Gene Mutation written by David Neil Cooper and published by Taylor & Francis. This book was released on 1993 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.
Download or read book The Human Gene Mutation Database written by and published by . This book was released on 1997 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive collection of data on germ-line mutations in nuclear genes that are associated or causative of human inherited disease. Site provides search access by disease, gene name, or gene symbol.
Download or read book Human Gene Mutation Database written by and published by . This book was released on with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Features the Human Gene Mutation Database, presented by the Institute of Medical Genetics within the College of Medicine of the University of Wales. Allows users to search the database. Notes that the database comprises various types of mutation within the coding regions of human nuclear genes causing inherited disease.
Download or read book Mechanisms of Insertion and Deletion Mutations written by Erika Marit Kvikstad and published by . This book was released on 2009 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Despite substantial progress in understanding the molecular mechanisms of origin for nucleotide substitutions, at present we have only a rudimentary understanding of these processes for insertions and deletions. Such knowledge is important because almost a third of all mutations in the Human Gene Mutation Database (http://www.hgmd.org/) are insertions and deletions (indels). Here we use the tools of bioinformatics, statistics and comparative genomics to study indel mutagenesis in detail. We have established a novel computational pipeline to accurately detect insertions and deletions in whole-genome human-chimpanzee alignments using the macaque sequence as an outgroup. This platform has allowed us to address several key questions pertaining to the formation of indels. In particular, this dissertation is organized around three specific questions: 1. What determines the variation in small insertion and deletion rates across the human genome? Genomic factors delineated here distinguish insertion vs. deletion mutagenesis. 2. What are the specific local contexts that contribute to rate differences in small insertions vs. deletions? Specific local sequences are hypothesized to facilitate indel mutations, and to differ between insertions and deletions. 3. What is the mechanism(s) contributing to the observed distribution of transposable elements (TEs) on primate sex chromosomes? Comparisons of sex chromosomes vs. autosomes (combining both their sequence features and retrotransposition history) serve to narrow the alternative scenarios for the evolution of the observed distribution. Results from this research directly contribute to understanding the biological basis for insertion and deletion mutagenesis, with its implications for human genetic diseases. In addition, it aids in the development of improved gap modeling, which is crucial for improving alignment methodology and thus the accuracy of inferences regarding genome evolution.
Download or read book The Thalassaemia Syndromes written by David J. Weatherall and published by John Wiley & Sons. This book was released on 2008-04-30 with total page 864 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the new edition of this successful and authoritative book, the thalassaemias are reviewed in detail with respect to their clinical features, cellular pathology, molecular genetics, prevention and treatment. It is aimed at specialists in haematology in the laboratory or clinical setting, particularly in areas where thalassaemia is common either in the native population or in immigrant communities. The fourth edition has been both updated and re-organized. Three new chapters have been added on the link between alpha-thalassaemia and mental retardation, on avoidance and population control and on global epidemiology. Considerable emphasis is placed on molecular pathology reflecting the huge burst of information to have come out of this field in the last few years.
Download or read book Dilated Cardiomyopathy written by Gianfranco Sinagra and published by Springer. This book was released on 2019-05-17 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access book presents a comprehensive overview of dilated cardiomyopathy, providing readers with practical guidelines for its clinical management. The first part of the book analyzes in detail the disease’s pathophysiology, its diagnostic work up as well as the prognostic stratification, and illustrates the role of genetics and gene-environment interaction. The second part presents current and future treatment options, highlighting the importance of long-term and individualized treatments and follow-up. Furthermore, it discusses open issues, such as the apparent healing phenomenon, the early prognosis of arrhythmic events or the use of genetic testing in clinical practice. Offering a multidisciplinary approach for optimizing the clinical management of DCM, this book is an invaluable aid not only for the clinical cardiologists, but for all physicians involved in the care of this challenging disease.
Download or read book Molecular Epidemiology written by Paul A. Schulte and published by Academic Press. This book was released on 2012-12-02 with total page 609 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will serve as a primer for both laboratory and field scientists who are shaping the emerging field of molecular epidemiology. Molecular epidemiology utilizes the same paradigm as traditional epidemiology but uses biological markers to identify exposure, disease or susceptibility. Schulte and Perera present the epidemiologic methods pertinent to biological markers. The book is also designed to enumerate the considerations necessary for valid field research and provide a resource on the salient and subtle features of biological indicators.
Download or read book Inside the Human Genome written by John C. Avise and published by Oxford University Press. This book was released on 2010-02-12 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: Humanity's physical design flaws have long been apparent--we get hemorrhoids and impacted wisdom teeth, for instance--but do the imperfections extend down to the level of our genes? Inside the Human Genome is the first book to examine the philosophical question of why, from the perspectives of biochemistry and molecular genetics, flaws exist in the biological world. Distinguished evolutionary geneticist John Avise offers a panoramic yet penetrating exploration of the many gross deficiencies in human DNA--ranging from mutational defects to built-in design faults--while at the same time offering a comprehensive treatment of recent findings about the human genome. The author shows that the overwhelming scientific evidence for genomic imperfection provides a compelling counterargument to intelligent design. He also develops a case that theologians should welcome rather than disavow these discoveries. The evolutionary sciences can help mainstream religions escape the shackles of Intelligent Design, and thereby return religion to its rightful realm--not as the secular interpreter of the biological minutiae of our physical existence, but rather as a respectable philosophical counselor on grander matters of ultimate concern.
Download or read book Human Genome written by and published by . This book was released on 1997 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Bedside Dysmorphologist written by William Reardon and published by Oxford University Press, USA. This book was released on 2015-10-14 with total page 409 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardon's new text is to provide a practical solution to this situation.
Download or read book Bioinformatics written by Stanley I. Letovsky and published by Springer Science & Business Media. This book was released on 2006-06-01 with total page 298 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bioinformatics brings computational methods to the analysis and processing of genomic data. Bioinformatics: Databases and Systems focuses on the issues of system building and data curation that dominate the day-to-day concerns of bioinformatics practitioners. Included are chapters by many of today's leading bioinformatics practitioners, describing most of the current paradigms of system building and curation, including both their strengths and weaknesses. Biological topics covered include sequence databases, metabolic pathways, phenotypes, variety collections, gene expression atlases and neuroinformatics. Species range from bacteria to mammals to plants. Software systems and technologies covered include OPM, CORBA, SRS, KLEISLI, ACEDB, Web-based integration and laboratory workflow. Bioinformatics: Databases and Systems provides a valuable introduction for newcomers to the field, and a useful reference for veterans.
Download or read book Human Genome Informatics written by Christophe Lambert and published by Academic Press. This book was released on 2018-08-02 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field. Provides an overview of the most commonly used electronic tools to translate genomic information Brings an update on the existing human genomic databases that directly impact genome interpretation Summarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine
Download or read book Mendelian Inheritance in Man written by Victor Almon McKusick and published by . This book was released on 1998 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Describes individual genes and/or phenotypes representing individual genes.
Download or read book Computational Cardiology written by Frank B. Sachse and published by Springer. This book was released on 2005-01-12 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is devoted to computer-based modeling in cardiology, by taking an educational point of view, and by summarizing knowledge from several, commonly considered delimited areas of cardiac research in a consistent way. First, the foundations and numerical techniques from mathematics are provided, with a particular focus on the finite element and finite differences methods. Then, the theory of electric fields and continuum mechanics is introduced with respect to numerical calculations in anisotropic biological media. In addition to the presentation of digital image processing techniques, the following chapters deal with particular aspects of cardiac modeling: cardiac anatomy, cardiac electro physiology, cardiac mechanics, modeling of cardiac electro mechanics. This book was written for researchers in modeling and cardiology, for clinical cardiologists, and for advanced students.
Download or read book Genetics and Genomics in Medicine written by Tom Strachan and published by Taylor & Francis. This book was released on 2014-06-02 with total page 545 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti
