Download or read book Genomic Structural Variants in Nervous System Disorders written by Christos Proukakis and published by . This book was released on 2022 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume covers the detection of structural variants (SVs), which require different strategies than the ones used for single nucleotide variants (SNVs). This book aims to provide readers with a combination of the latest “wet lab” methods and computational pipelines that target all SV classes. The chapters in this book cover topics such as detection of transposable elements (TEs) from short read data; long read sequencing used for multiple variable number tandem repeat analysis; genomic mosaicism in the nervous system; and optical genome mapping. In the Neuromethods series style, chapters include the kind of detail and key advice from the specialists needed to get successful results in your laboratory. Cutting-edge and comprehensive, Genomic Structural Variants in Nervous System Disorders is a valuable resource for scientists and researchers interested in learning more about this important field. .
Download or read book Methods in Genomic Neuroscience written by Hemin R. Chin and published by CRC Press. This book was released on 2001-09-26 with total page 432 pages. Available in PDF, EPUB and Kindle. Book excerpt: The past few years have witnessed extraordinary advances in molecular genetic techniques and the accumulation of structural genomics information and resources in both human and model organisms. With the development of new technologies and the availability of resources like the sequence of eukaryotic genomes, problems of a previously unthinkable sco
Download or read book Characterizing Genomic and Transcriptomic Heterogeneity in Neurodegenerative Diseases written by Chris Park and published by . This book was released on 2023 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurodegenerative diseases represent a large group of neurological disorders with heterogeneous clinical and pathological presentations--often affecting a specific subset of cells in particular anatomical regions. These complex and often overlapping features presents a challenge in identifying the cause behind the vulnerability of these cell populations and anatomical area. However, with recent advancements in omics technology, the complexity of the mammalian brain is being rapidly teased out. Two of these technologies offer a unique perspective and deeper resolution to study the heterogeneity in the brain: long-read sequencing and single-cell microfluidics. In this dissertation, I demonstrate the use of one or both technologies to further characterize the heterogeneity in human brain and its relationship to various neurodegenerative diseases. My initial work identifies a novel genomic structural variant in the gene SNCA, a causal gene in Parkinson's disease (PD) and other synucleinopathies. These intron-less sequences are known as gencDNAs (genomic cDNA) and are found in human cortical neurons of both PD and age-matched controls in a mosaic manner. Furthermore, it is unveiled that a small subset of copies contains point mutations in loci reported to cause monogenic PD, if mutated in its native counterpart, when using long-read amplicon sequencing. Though much is unknown about of SNCA gencDNAs, it is hypothesized to be created due to a reverse transcription event and re-inserted back into the genome. My subsequent work combines both single-cell RNA sequencing and long-read sequencing to examine and compare the transcriptome of various neurodegenerative diseases in the frontal cortex at a single cell resolution. Despite being a synucleinopathy, dementia with Lewy bodies (DLB) has more transcriptomic similarities to Alzheimer's disease (AD) than with PD. While profiling the isoforms of selected genes within these diseases, a vast number of novel isoforms are also identified, with some specific to a particular cell type, such as NRGN. Finally, some major isoform switching is observed in at a cell type resolution, even in genes that were not differentially expressed in our short-read RNA-seq data, such as BIN1 in DLB oligodendrocyte and CLU in AD and DLB excitatory neurons. This dissertation further illuminates the heterogeneity in the human brain at a genomic and transcriptomic layer in the context of various neurodegeneration using long-read sequencing and single cell microfluidics.
Download or read book Detection and Interpretation of Genomic Structural Variation in Patients with Cognitive Disorders written by Geert Vandeweyer and published by . This book was released on 2011 with total page 186 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Applied Bioinformatics written by Paul Maria Selzer and published by Springer Science & Business Media. This book was released on 2008-01-18 with total page 297 pages. Available in PDF, EPUB and Kindle. Book excerpt: At last, here is a baseline book for anyone who is confused by cryptic computer programs, algorithms and formulae, but wants to learn about applied bioinformatics. Now, anyone who can operate a PC, standard software and the internet can also learn to understand the biological basis of bioinformatics, of the existence as well as the source and availability of bioinformatics software, and how to apply these tools and interpret results with confidence. This process is aided by chapters that introduce important aspects of bioinformatics, detailed bioinformatics exercises (including solutions), and to cap it all, a glossary of definitions and terminology relating to bioinformatics.
Download or read book The Molecular and Genetic Basis of Neurologic and Psychiatric Disease written by Roger N. Rosenberg and published by Lippincott Williams & Wilkins. This book was released on 2008 with total page 930 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely updated for its Fourth Edition, this book is the most comprehensive, current review of the molecular and genetic basis of neurologic and psychiatric diseases. More than 120 leading experts provide a fresh, new assessment of recent molecular, genetic, and genomic advances, offer new insights into disease pathogenesis, describe the newest available therapies, and explore promising areas of therapeutic development. This edition features an updated section on psychiatric disease and expanded, updated chapters on human genomics, gene therapy, and ethical issues. Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. A Neurologic Gene Map describes the chromosome locus of all the genetic diseases and their gene product where known. The fully searchable online text will be available on a companion Website. (www.rosenbergneuroandpsychdisease.com)
Download or read book The Oxford Handbook of Externalizing Spectrum Disorders written by Theodore P. Beauchaine and published by Oxford University Press, USA. This book was released on 2015-10-29 with total page 545 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Oxford Handbook of Externalizing Spectrum Disorders is the first book of its kind to capture the developmental psychopathology of externalizing spectrum disorders by examining causal factors across levels of analysis and developmental epochs, while departing from the categorical perspective.
Download or read book Early Start Denver Model for Young Children with Autism written by Sally J. Rogers and published by Guilford Press. This book was released on 2010-01-01 with total page 321 pages. Available in PDF, EPUB and Kindle. Book excerpt: Supported by the principles of developmental psychology and applied behavior analysis, ESDM's intensive teaching interventions are delivered within play-based, relationship-focused routines. The manual provides structured, hands-on strategies for working with very young children in individual and group settings to promote development in such key domains as imitation; communication; social, cognitive, and motor skills; adaptive behavior; and play. --from publisher description
Download or read book Genomics Proteomics and the Nervous System written by James D Clelland and published by Springer Science & Business Media. This book was released on 2010-12-03 with total page 598 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genomic Medicine written by Dhavendra Kumar and published by Oxford Monographs on Medical G. This book was released on 2014-10-15 with total page 853 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.
Download or read book The Genetics of African Populations in Health and Disease written by Muntaser E. Ibrahim and published by Cambridge University Press. This book was released on 2019-12-19 with total page 351 pages. Available in PDF, EPUB and Kindle. Book excerpt: A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.
Download or read book Human Prion Diseases written by and published by Elsevier. This book was released on 2018-06-07 with total page 512 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Prion Diseases, Volume 153 is designed to update the reader on the latest advances and clinical aspects of prion diseases. The book is organized into five sections, including the pathophysiology of prions and a description of animal and human diseases. This is followed by detailed reports on recent advances in diagnosis strategies for the development of novel anti-prion molecules and possible designs of clinical trials in such a rare disease. An introductory chapter gives an extensive historical background of prion research, with a final chapter highlighting recent progress, and more importantly, unsolved problems. Offers an authoritative overview of prion diseases in humans, detailing the pathogenesis of the disease, clinical investigations, and the diagnosis of both the genetic and acquired forms Provides clarity and context by presenting prion diseases in relation to other neurodegenerative diseases in humans Emphasizes the unique properties of prion diseases and consequent problems they can cause, both clinically and in public health terms
Download or read book Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Academic Press. This book was released on 2020-06-24 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume One, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Provides a detailed introduction on both the clinical and basic research implications of molecular and genetics surrounding the brain Includes new chapters on molecular genomics, CRISPR and the most recent updates in molecular genetics
Download or read book Genes written by Jonathan Slack and published by Oxford University Press, USA. This book was released on 2014 with total page 137 pages. Available in PDF, EPUB and Kindle. Book excerpt: Explores the discovery, nature, and role of genes in evolution and development.
Download or read book The Chromosome 22q11 2 Deletion Syndrome written by Donna M. McDonald-McGinn and published by Academic Press. This book was released on 2022-08-19 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making
Download or read book Animal Domestication written by Fabrice Teletchea and published by . This book was released on 2019 with total page 170 pages. Available in PDF, EPUB and Kindle. Book excerpt: Domestication, which is by definition a long ongoing process, was one of the most significant cultural and evolutionary transitions of human history, as well as a fundamental change in the evolution of the biosphere. Nevertheless, despite a vivid interest from numerous scholars, both the terms ""domestication"" and ""domestic animal"" remain confusing, and several animal groups are still poorly studied. This book contains contributions from diverse researchers and includes seven chapters, three on land animals and four on aquatic animals. The goal of this book is to stimulate fruitful exchanges to help better define the concepts of domestication and domesticated animals, and on a more applied view, help develop a more sustainable production, with animals more efficient and resilient to global change.
