› › Genome Analysis And Human Health

Mapping and Sequencing the Human Genome

Author : National Research Council

Publisher : National Academies Press

Page : 128 pages

File Size : 14,94 MB

Release : 1988-01-01

Category : Science

ISBN : 0309038405

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Book Description

There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.



Genome Analysis and Human Health

Author : Leena Rawal

Publisher : Springer

Page : 170 pages

File Size : 22,93 MB

Release : 2017-06-08

Category : Medical

ISBN : 9811042985

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Book Description

This book highlights selected current data and its relevance in the human health care system, offering a fundamental primer on genetics and human health. With the advent of new high-throughput technologies (for the whole genome including exome sequencing), the conventional focus on genetics and individual genes is now shifting toward the analysis of complex genes, gene-gene interactions and the association between genes and environment, including epigenetics. The rapidly changing scientific research landscape, with the ever-growing influx of data on one hand and emergence of newer and more complicated diseases on the other, has created a dilemma for researchers and caregivers, who are still hopeful that advances in genetics and genomics will provide avenues for the understanding, prevention and possible cure of human diseases. The book focuses on the interactions between genes and proteins at both the transcriptome and proteome levels, which in turn affect the human genome and health. Additionally, it covers the domain that must be explored in order to understand the gene-gene and protein-protein interactions that contribute to human health. The book offers a valuable guide for all students and researchers working in the area of molecular genetics and genomics.



Genomics

Author : Hans C. Andersson, MD

Publisher : Millbrook Press

Page : 139 pages

File Size : 19,96 MB

Release : 2020-09-01

Category : Young Adult Nonfiction

ISBN : 1728411580

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Book Description

Over the past 50 years, scientists have made incredible progress in the application of genetic research to human health care and disease treatment. Innovative tools and techniques, including gene therapy and CRISPR-Cas9 editing, can treat inherited disorders that were previously untreatable, or prevent them from happening in the first place. You can take a DNA test to learn where your ancestors are from. Police officers can use genetic evidence to identify criminals—or innocents. And some doctors are using new medical techniques for unprecedented procedures. Genomics: A Revolution in Health and Disease Discovery delves into the history, science, and ethics behind recent breakthroughs in genetic research. Authors Whitney Stewart and Hans Andersson, MD, present fascinating case studies that show how real people have benefitted from genetic research. Though the genome remains full of mysteries, researchers and doctors are working hard to uncover its secrets and find the best ways to treat patients and cure diseases. The discoveries to come will inform how we target disease treatment, how we understand our health, and how we define our very identities.



Computational Genome Analysis

Author : Richard C. Deonier

Publisher : Springer Science & Business Media

Page : 543 pages

File Size : 41,37 MB

Release : 2005-12-27

Category : Computers

ISBN : 0387288074

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Book Description

This book presents the foundations of key problems in computational molecular biology and bioinformatics. It focuses on computational and statistical principles applied to genomes, and introduces the mathematics and statistics that are crucial for understanding these applications. The book features a free download of the R software statistics package and the text provides great crossover material that is interesting and accessible to students in biology, mathematics, statistics and computer science. More than 100 illustrations and diagrams reinforce concepts and present key results from the primary literature. Exercises are given at the end of chapters.



The Human Genome in Health and Disease

Author : Tore Samuelsson

Publisher : Garland Science

Page : 547 pages

File Size : 42,84 MB

Release : 2019-02-07

Category : Medical

ISBN : 042966429X

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Book Description

The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders. The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome. Key selling features: Molecular sequence perspective, explaining the relationship between DNA sequence motifs and biological function Aids in understanding the functional impact of mutations and genetic variants Material presented at basic level, making it accessible to students without previous studies of genetics and molecular biology Richly illustrated with questions provided to each chapter



Heritable Human Genome Editing

Author : The Royal Society

Publisher : National Academies Press

Page : 239 pages

File Size : 48,10 MB

Release : 2021-01-16

Category : Medical

ISBN : 0309671132

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Book Description

Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.



Human Genome Structure, Function and Clinical Considerations

Author : Luciana Amaral Haddad

Publisher : Springer Nature

Page : 367 pages

File Size : 24,60 MB

Release : 2021-06-07

Category : Medical

ISBN : 3030731510

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Book Description

This book provides a detailed evidence-based overview of the latest developments in how the structure of the human genome is relevant to the health professional. It features comprehensive reviews of genome science including human chromosomal and mitochondrial DNA structure, protein-coding and noncoding genes, and the diverse classes of repeat elements of the human genome. These concepts are then built upon to provide context as to how they functionally relate to differences in phenotypic traits that can be observed in human populations. Guidance is also provided on how this information can be applied by the medical practitioner in day-to-day clinical practice. Human Genome Structure, Function and Clinical Considerations collates the latest developments in genome science and current methods for genome analysis that are relevant for the clinician, researcher and scientist who utilises precision medicine techniques and is an essential resource for any such practitioner.



Human Genome Editing

Author : National Academies of Sciences, Engineering, and Medicine

Publisher : National Academies Press

Page : 329 pages

File Size : 35,33 MB

Release : 2017-08-13

Category : Medical

ISBN : 0309452880

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Book Description

Genome editing is a powerful new tool for making precise alterations to an organism's genetic material. Recent scientific advances have made genome editing more efficient, precise, and flexible than ever before. These advances have spurred an explosion of interest from around the globe in the possible ways in which genome editing can improve human health. The speed at which these technologies are being developed and applied has led many policymakers and stakeholders to express concern about whether appropriate systems are in place to govern these technologies and how and when the public should be engaged in these decisions. Human Genome Editing considers important questions about the human application of genome editing including: balancing potential benefits with unintended risks, governing the use of genome editing, incorporating societal values into clinical applications and policy decisions, and respecting the inevitable differences across nations and cultures that will shape how and whether to use these new technologies. This report proposes criteria for heritable germline editing, provides conclusions on the crucial need for public education and engagement, and presents 7 general principles for the governance of human genome editing.



Human Genome Informatics

Author : Christophe Lambert

Publisher : Academic Press

Page : 316 pages

File Size : 22,65 MB

Release : 2018-08-02

Category : Medical

ISBN : 0128134313

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Book Description

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



Genomics

Author : Charles R. Cantor

Publisher : John Wiley & Sons

Page : 621 pages

File Size : 42,95 MB

Release : 2004-01-06

Category : Science

ISBN : 0471461865

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Book Description

A unique exploration of the principles and methods underlying the Human Genome Project and modern molecular genetics and biotechnology-from two top researchers In Genomics, Charles R. Cantor, former director of the Human Genome Project, and Cassandra L. Smith give the first integral overview of the strategies and technologies behind the Human Genome Project and the field of molecular genetics and biotechnology. Written with a range of readers in mind-from chemists and biologists to computer scientists and engineers-the book begins with a review of the basic properties of DNA and the chromosomes that package it in cells. The authors describe the three main techniques used in DNA analysis-hybridization, polymerase chain reaction, and electrophoresis-and present a complete exploration of DNA mapping in its many different forms. By explaining both the theoretical principles and practical foundations of modern molecular genetics to a wide audience, the book brings the scientific community closer to the ultimate goal of understanding the biological function of DNA. Genomics features: * Topical organization within chapters for easy reference * A discussion of the developing methods of sequencing, such as sequencing by hybridization (SBH) in which data is read through words instead of letters * Detailed explanations and critical evaluations of the many different types of DNA maps that can be generated-including cytogenic and restriction maps as well as interspecies cell hybrids * Informed predictions for the future of DNA sequencing