Within Genome Variation of Germ-line and Somatic Mutation

Within Genome Variation of Germ-line and Somatic Mutation PDF Author: Thomas C. A. Smith
Publisher:
ISBN:
Category :
Languages : en
Pages :

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Within Genome Variation of Germ-line and Somatic Mutation

Within Genome Variation of Germ-line and Somatic Mutation PDF Author: Thomas C. A. Smith
Publisher:
ISBN:
Category :
Languages : en
Pages :

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Book Description


Human Genome Editing

Human Genome Editing PDF Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309452880
Category : Medical
Languages : en
Pages : 329

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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.

Evolutionary Biology—A Transdisciplinary Approach

Evolutionary Biology—A Transdisciplinary Approach PDF Author: Pierre Pontarotti
Publisher: Springer Nature
ISBN: 3030572463
Category : Science
Languages : en
Pages : 389

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Book Description
This book includes 16 selected contributions presented at the 23rd Evolutionary Biology Meeting, which took place in Marseille in September 2019. The annual Evolutionary Biology Meetings in Marseille serve to gather leading evolutionary biologists and other scientists using evolutionary biology concepts, e.g. for medical research. The aim of these meetings is to promote the exchange of ideas to encourage interdisciplinary collaborations. Offering an up-to-date overview of recent findings in the field of evolutionary biology, this book is an invaluable source of information for scientists, teachers and advanced students.

Somatic Genome Variation

Somatic Genome Variation PDF Author: Xiu-Qing Li
Publisher: John Wiley & Sons
ISBN: 1118647068
Category : Science
Languages : en
Pages : 452

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Book Description
Written by an international team of experts, Somatic Genome Variation presents a timely summary of the latest understanding of somatic genome development and variation in plants, animals, and microorganisms. Wide-ranging in coverage, the authors provide an updated view of somatic genomes and genetic theories while also offering interpretations of somatic genome variation. The text provides geneticists, bioinformaticians, biologist, plant scientists, crop scientists, and microbiologists with a valuable overview of this fascinating field of research.

Heritable Human Genome Editing

Heritable Human Genome Editing PDF Author: The Royal Society
Publisher: National Academies Press
ISBN: 0309671132
Category : Medical
Languages : en
Pages : 239

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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.

Somatic Genome Variation

Somatic Genome Variation PDF Author: Xiu-Qing Li
Publisher: John Wiley & Sons
ISBN: 1118647122
Category : Science
Languages : en
Pages : 512

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Book Description
Written by an international team of experts, Somatic Genome Variation presents a timely summary of the latest understanding of somatic genome development and variation in plants, animals, and microorganisms. Wide-ranging in coverage, the authors provide an updated view of somatic genomes and genetic theories while also offering interpretations of somatic genome variation. The text provides geneticists, bioinformaticians, biologist, plant scientists, crop scientists, and microbiologists with a valuable overview of this fascinating field of research.

The Generation of Diversity

The Generation of Diversity PDF Author: Alfred I. Tauber
Publisher: Harvard University Press
ISBN: 9780674001824
Category : Antibody diversity
Languages : en
Pages : 532

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Book Description
This book is an intellectual history of the major theoretical problem in immunology and its resolution in the post-World War II period. In recent years immunology has been one of the most exciting--and successful--fields of biomedical research; this book provides essential background for understanding the conceptual conflicts occurring in the field.

An Evidence Framework for Genetic Testing

An Evidence Framework for Genetic Testing PDF Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309453291
Category : Medical
Languages : en
Pages : 149

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Book Description
Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Incorporating Germline Variants Into Cancer Analyses

Incorporating Germline Variants Into Cancer Analyses PDF Author: Alexandra Buckley
Publisher:
ISBN:
Category :
Languages : en
Pages : 258

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Book Description
Cancer results from the progressive accumulation of genetic alterations that drive uncontrolled cell growth. The genetic alterations present in a cancer cell originate from two sources: 1) inherited, or germline, variants present in every cell of the body and 2) acquired, or somatic, mutations specific to tumor cells. These two sources of genetic alterations have largely been studied separately: germline variants for their role in cancer risk and somatic mutations for their role in shaping somatic phenotypes. Only recently have these two fields intersected, most notably by the observation that germline BRCA1/2 variants not only predispose to cancer but also influence the mutational profile of the resultant tumors. The degree to which germline variation influences somatic phenotypes in sporadic cancer remains unclear. We propose that similar to how the climate of a region influences the local flora and fauna, germline variation in genes mediating processes such as DNA damage repair, immune response, and drug metabolism, shapes tumor development. In this work, we study germline variation in 9,099 individuals from the Cancer Genome Atlas (TCGA) with the goal of identifying associations between germline variants and somatic phenotypes and determining what, if any, value is added by integrating germline variants into cancer analyses. A hindrance to this type of study was a lack of publicly available germline variant calls from individuals with cancer. To address this, we developed and implemented a variant calling pipeline to generate a high quality germline variant dataset from TCGA data. Accurately assessing the contribution of germline variants to somatic phenotypes requires models that account for both germline and somatic sources of genetic alterations. We integrated germline variation and somatic mutation, epigenetic modification, and copy number alteration data to identify genetic factors that underlie variation in two somatic phenotypes: microsatellite instability and somatic mutational signatures. We further describe a novel method to phase germline variants that leverages unique properties of paired somatic and germline sequence data, and demonstrate the value of including phase information into germline analyses of cancer. Overall, this study illustrates that integration of germline and somatic data can reveal novel biological and methodological insights.

Human Adult Stem Cells

Human Adult Stem Cells PDF Author: John Masters
Publisher: Springer
ISBN: 9789048122684
Category : Medical
Languages : en
Pages : 208

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Book Description
The aim of volume 7 of Human Cell Culture is to provide clear and precise methods for growing primary cultures of adult stem cells from various human tissues and describe culture conditions in which these adult stem cells differentiate along their respective lineages. The book will be of value to biomedical scientists and of special interest to stem cell biologists and tissue engineers. Each chapter is written by experts actively involved in growing human adult stem cells.