Download or read book Characterizing Rare Genetic and Epigenetic Variation in Complex Phenotypes written by Enrique Ivan Ramos and published by . This book was released on 2015 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: Common genetic variability has failed to explain a large fraction of the heritability of complex disease. In contrast, rare genomic variation plays an important role in novel Mendelian phenotypes and complex traits, and is the most common type of genetic variation in populations (Tennessen et al, 2012). International large sequencing initiatives have demonstrated that individual genetic variability exceeds prior estimates (Fu et al, 2013), and complex traits are mediated through additive genetic variation (Hill WG, 2008). Identification of these rare variant profiles is relevant to pinpoint potential disease-related mechanisms in complex disease; however, due to the substantial number of possible targets in the genome and the variability between individuals, this task was not easily attainable until the advent of next-generation sequencing (NGS) and the subsequent ability to target any portion of the genome. These analyses require processing extensive amounts of NGS data using robust and accurate bioinformatics. To improve the ability to quantitatively characterize rare variability in complex phenotypes, I have participated in the development of bioinformatic pipelines that enable detection of rare substitutions, insertions and deletions from a few target genes in anonymous pools of DNA (Vallania, Ramos et al, 2010; Vallania, Ramos et al, 2012) and extended the capability of these pipelines to allow highly sensitive, specific and efficient quantification of rare variation from targeted capture of hundreds of candidate genes up to entire exomes in individually indexed ("bar-coded") NGS data (Ramos et al, 2012). I have demonstrated the utility of these algorithms through the identification of disease-causing genes in complex phenotypes such as fatal extreme microcephaly (Ramos et al, 2014) and congenital anomalies of the kidney or lower urinary tract (Chatterjee, Ramos et al, 2012). Additional types of rare epigenetic variation, such as DNA methylation, may further influence complex phenotypes and biological processes (Hernandez et al, 2012; Leung et al, 2012; Bell et al, 2011). However, outside of costly whole genome bisulfite sequencing, methods for large scale, targeted DNA methylation analysis (e.g. methylated DNA immunoprecipitation (MeDIP), reduced representation bisulfate sequencing (RRBS), methylation sensitive restriction enzyme (MSRE) digestion) have demonstrated conflicting results. To develop more robust bioinformatics for the quantification of rare epigenomic variation in complex traits, I have developed a novel genome-wide murine methylome hybridization capture array and adapted my previously established pipeline to enable highly sensitive methylation analysis. Using this array and bioinformatic pipeline, I have identified a discreet number of age and tissue-specific methylation changes in the mouse genome (manuscript in preparation), as well as, identification of novel tissue-specific DNA methylation patterns of genes involved in neurodevelopment (Hing, Ramos; et al.). Taken together, the goal of this study is to facilitate the quantification of different forms of rare variation, which will lead to novel insights in complex phenotypes and diseases.
Download or read book Genes Behavior and the Social Environment written by Institute of Medicine and published by National Academies Press. This book was released on 2006-12-07 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.
Download or read book Biosocial Surveys written by National Research Council and published by National Academies Press. This book was released on 2008-01-06 with total page 429 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biosocial Surveys analyzes the latest research on the increasing number of multipurpose household surveys that collect biological data along with the more familiar interviewerâ€"respondent information. This book serves as a follow-up to the 2003 volume, Cells and Surveys: Should Biological Measures Be Included in Social Science Research? and asks these questions: What have the social sciences, especially demography, learned from those efforts and the greater interdisciplinary communication that has resulted from them? Which biological or genetic information has proven most useful to researchers? How can better models be developed to help integrate biological and social science information in ways that can broaden scientific understanding? This volume contains a collection of 17 papers by distinguished experts in demography, biology, economics, epidemiology, and survey methodology. It is an invaluable sourcebook for social and behavioral science researchers who are working with biosocial data.
Download or read book Epigenetics in Psychiatry written by Jacob Peedicayil and published by Academic Press. This book was released on 2021-08-21 with total page 848 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetics in Psychiatry, Second Edition covers all major areas of psychiatry in which extensive epigenetic research has been performed, fully encompassing a diverse and maturing field, including drug addiction, bipolar disorder, epidemiology, cognitive disorders, and the uses of putative epigenetic-based psychotropic drugs. Uniquely, each chapter correlates epigenetics with relevant advances across genomics, transcriptomics, and proteomics. The book acts as a catalyst for further research in this growing area of psychiatry. This new edition has been fully revised to address recent advances in epigenetic understanding of psychiatric disorders, evoking data consortia (e.g., CommonMind, ATAC-seq), single cell analysis, and epigenome-wide association studies to empower new research. The book also examines epigenetic effects of the microbiome on psychiatric disorders, and the use of neuroimaging in studying the role of epigenetic mechanisms of gene expression. Ongoing advances in epigenetic therapy are explored in-depth. Fully revised to discuss new areas of research across neuronal stem cells, cognitive disorders, and transgenerational epigenetics in psychiatric disease Relates broad advances in psychiatric epigenetics to a modern understanding of the genome, transcriptome, and proteins Catalyzes knowledge discovery in both basic epigenetic biology and epigenetic targets for drug discovery Provides guidance in research methods and protocols, as well how to employ data from consortia, single cell analysis, and epigenome-wide association studies (EWAS) Features chapter contributions from international leaders in the field
Download or read book Developmental Instability written by Michal Polak and published by Oxford University Press, USA. This book was released on 2003 with total page 488 pages. Available in PDF, EPUB and Kindle. Book excerpt: The field of developmental instability has generated a large amount of controversy recently, mostly because of fierce disagreement over the genetic basis of fluctuating asymmetry and its role in mate selection. This book is a timely and innovative critical evaluation of a burgeoning field. The book explores the premise that complex organismal, ecological and evolutionary processes can be understood as emergent properties of the "epigenetic machine," that is, the mechanisms fundamental to all organisms responsible for building and organizing phenotypes from information translated from DNA.
Download or read book Applications of Toxicogenomic Technologies to Predictive Toxicology and Risk Assessment written by National Research Council and published by National Academies Press. This book was released on 2007-12-19 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: The new field of toxicogenomics presents a potentially powerful set of tools to better understand the health effects of exposures to toxicants in the environment. At the request of the National Institute of Environmental Health Sciences, the National Research Council assembled a committee to identify the benefits of toxicogenomics, the challenges to achieving them, and potential approaches to overcoming such challenges. The report concludes that realizing the potential of toxicogenomics to improve public health decisions will require a concerted effort to generate data, make use of existing data, and study data in new waysâ€"an effort requiring funding, interagency coordination, and data management strategies.
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 Systems Genetics written by Florian Markowetz and published by Cambridge University Press. This book was released on 2015-07-02 with total page 287 pages. Available in PDF, EPUB and Kindle. Book excerpt: Whereas genetic studies have traditionally focused on explaining heritance of single traits and their phenotypes, recent technological advances have made it possible to comprehensively dissect the genetic architecture of complex traits and quantify how genes interact to shape phenotypes. This exciting new area has been termed systems genetics and is born out of a synthesis of multiple fields, integrating a range of approaches and exploiting our increased ability to obtain quantitative and detailed measurements on a broad spectrum of phenotypes. Gathering the contributions of leading scientists, both computational and experimental, this book shows how experimental perturbations can help us to understand the link between genotype and phenotype. A snapshot of current research activity and state-of-the-art approaches to systems genetics are provided, including work from model organisms such as Saccharomyces cerevisiae and Drosophila melanogaster, as well as from human studies.
Download or read book Epigenetic Epidemiology written by Karin B. Michels and published by Springer Science & Business Media. This book was released on 2012-01-03 with total page 450 pages. Available in PDF, EPUB and Kindle. Book excerpt: The exploding field of epigenetics is challenging the dogma of traditional Mendelian inheritance. Epigenetics plays an important role in shaping who we are and contributes to our prospects of health and disease. While early epigenetic research focused on plant and animal models and in vitro experiments, population-based epidemiologic studies increasingly incorporate epigenetic components. The relevance of epigenetic marks, such as DNA methylation, genomic imprinting, and histone modification for disease causation has yet to be fully explored. This book covers the basic concepts of epigenetic epidemiology, discusses challenges in study design, analysis, and interpretation, epigenetic laboratory techniques, the influence of of age and environmental factors on shaping the epigenome, the role of epigenetics in the developmental origins hypothesis, and provides the state of the art on the epigenetic epidemiology of various health conditions including childhood syndromes, cancer, infectious diseases, inflammation and rheumatoid arthritis, asthma, autism and other neurodevelopmental disorders, psychiatric disorders, diabetes, obesity and metabolic disorders, and atherosclerosis. With contributions from: Peter Jones, Jean-Pierre Issa, Gavin Kelsey, Robert Waterland, and many other experts in epigenetics!
Download or read book Rice Genomics Genetics and Breeding written by Takuji Sasaki and published by Springer. This book was released on 2018-02-14 with total page 556 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the latest advances in rice genomics, genetics and breeding, with a special focus on their importance for rice biology and how they are breathing new life into traditional genetics. Rice is the main staple food for more than half of the world’s population. Accordingly, sustainable rice production is a crucial issue, particularly in Asia and Africa, where the population continues to grow at an alarming rate. The book’s respective chapters offer new and timely perspectives on the synergistic effects of genomics and genetics in novel rice breeding approaches, which can help address the urgent issue of providing enough food for a global population that is expected to reach 9 billion by 2050.
Download or read book Epigenetics written by C. David Allis and published by CSHL Press. This book was released on 2007 with total page 503 pages. Available in PDF, EPUB and Kindle. Book excerpt: The regulation of gene expression in many biological processes involves epigenetic mechanisms. In this new volume, 24 chapters written by experts in the field discuss epigenetic effects from many perspectives. There are chapters on the basic molecular mechanisms underpinning epigenetic regulation, discussion of cellular processes that rely on this kind of regulation, and surveys of organisms in which it has been most studied. Thus, there are chapters on histone and DNA methylation, siRNAs and gene silencing; X-chromosome inactivation, dosage compensation and imprinting; and discussion of epigenetics in microbes, plants, insects, and mammals. The last part of the book looks at how epigenetic mechanisms act in cell division and differentiation, and how errors in these pathways contribute to cancer and other human diseases. Also discussed are consequences of epigenetics in attempts to clone animals. This book is a major resource for those working in the field, as well as being a suitable text for advanced undergraduate and graduate courses on gene regulation.
Download or read book Epigenetics of Aging written by Trygve O. Tollefsbol and published by Springer Science & Business Media. This book was released on 2009-11-11 with total page 462 pages. Available in PDF, EPUB and Kindle. Book excerpt: Recent studies have indicated that epigenetic processes may play a major role in both cellular and organismal aging. These epigenetic processes include not only DNA methylation and histone modifications, but also extend to many other epigenetic mediators such as the polycomb group proteins, chromosomal position effects, and noncoding RNA. The topics of this book range from fundamental changes in DNA methylation in aging to the most recent research on intervention into epigenetic modifications to modulate the aging process. The major topics of epigenetics and aging covered in this book are: 1) DNA methylation and histone modifications in aging; 2) Other epigenetic processes and aging; 3) Impact of epigenetics on aging; 4) Epigenetics of age-related diseases; 5) Epigenetic interventions and aging: and 6) Future directions in epigenetic aging research. The most studied of epigenetic processes, DNA methylation, has been associated with cellular aging and aging of organisms for many years. It is now apparent that both global and gene-specific alterations occur not only in DNA methylation during aging, but also in several histone alterations. Many epigenetic alterations can have an impact on aging processes such as stem cell aging, control of telomerase, modifications of telomeres, and epigenetic drift can impact the aging process as evident in the recent studies of aging monozygotic twins. Numerous age-related diseases are affected by epigenetic mechanisms. For example, recent studies have shown that DNA methylation is altered in Alzheimer’s disease and autoimmunity. Other prevalent diseases that have been associated with age-related epigenetic changes include cancer and diabetes. Paternal age and epigenetic changes appear to have an effect on schizophrenia and epigenetic silencing has been associated with several of the progeroid syndromes of premature aging. Moreover, the impact of dietary or drug intervention into epigenetic processes as they affect normal aging or age-related diseases is becoming increasingly feasible.
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 Vogel and Motulsky s Human Genetics written by Michael Speicher and published by Springer Science & Business Media. This book was released on 2009-11-26 with total page 1006 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fourth edition of this classical reference book can once again be relied upon to present a cohesive and up-to-date exposition of all aspects of human and medical genetics. Human genetics has become one of the main basic sciences in medicine, and molecular genetics is increasingly becoming a major part of this field. This new edition integrates a wealth of new information - mainly describing the influence of the "molecular revolution" - including the principles of epigenetic processes which together create the phenotype of a human being. Other revisions are an improved layout, sub-division into a larger number of chapters, as well as two-colour print throughout for ease of reference, and many of the figures are now in full colour. For graduates and those already working in medical genetics.
Download or read book Genetic Dissection of Complex Traits written by D.C. Rao and published by Academic Press. This book was released on 2008-04-23 with total page 788 pages. Available in PDF, EPUB and Kindle. Book excerpt: The field of genetics is rapidly evolving and new medical breakthroughs are occuring as a result of advances in knowledge of genetics. This series continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines. Five sections on the latest advances in complex traits Methods for testing with ethical, legal, and social implications Hot topics include discussions on systems biology approach to drug discovery; using comparative genomics for detecting human disease genes; computationally intensive challenges, and more
Download or read book Epigenetic Inheritance and Evolution written by Eva Jablonka and published by Oxford University Press, USA. This book was released on 1995 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: Does the inheritance of acquired characteristics play a significant role in evolution? In this book, Eva Jablonka and Marion J. Lamb attempt to answer that question with an original, provocative exploration of the nature and origin of hereditary variations. Starting with a historical account of Lamarck's ideas and the reasons they have fallen in disrepute, the authors go on to challenge the prevailing assumption that all heritable variation is random and the result of variation in DNA base sequences. They also detail recent breakthroughs in our understanding of the molecular mechanisms underlying inheritance--including several pathways not envisioned by classical population genetics--and argue that these advances need to be more fully incorporated into mainstream evolutionary theory. Throughout, the book offers a new look at the evidence for and against the hereditability of environmentally induced changes, and addresses timely questions about the importance of non-Mendelian inheritance. A glossary and extensive list of references round out the book. Urging a reconsideration of the present DNA-centric view prevalent in the field, Epigentic Inheritance and Evolution will make fascinating and important reading for students and researchers in evolution, genetics, ecology, molecular biology, developmental biology, and the history and philosophy of science.
Download or read book The Oxford Handbook of Developmental Psychology Two Volume Set written by Philip David Zelazo and published by OUP USA. This book was released on 2013-04-11 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This two-volume handbook provides a comprehensive survey of what is now known about psychological development, from birth to biological maturity, and it highlights how cultural, social, cognitive, neural, and molecular processes work together to yield human behavior and changes in human behavior.
