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Titlebook: Diagnostic Genetic Testing; Core Concepts and th David Bourn Book 2022 The Editor(s) (if applicable) and The Author(s), under exclusive lic

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发表于 2025-3-21 18:12:06 | 显示全部楼层 |阅读模式
书目名称Diagnostic Genetic Testing
副标题Core Concepts and th
编辑David Bourn
视频video
概述Explores differing aspects of human genetics and genetic disorders.Covers the broader societal, ethical and philosophical aspects of diagnostic genetic testing.Written for everyone interested to learn
图书封面Titlebook: Diagnostic Genetic Testing; Core Concepts and th David Bourn Book 2022 The Editor(s) (if applicable) and The Author(s), under exclusive lic
描述.Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences...The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concludingpart then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to pat
出版日期Book 2022
关键词Diagnostic Genetics; Ethics of Genetic Testing; Single Gene Inheritance; X-linked Inheritance; Cancer Ge
版次1
doihttps://doi.org/10.1007/978-3-030-85510-9
isbn_softcover978-3-030-85512-3
isbn_ebook978-3-030-85510-9
copyrightThe Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerl
The information of publication is updating

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发表于 2025-3-21 22:36:07 | 显示全部楼层
Book 2022s. Special emphasis is also given to the questions of genetics and identity. The concludingpart then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to pat
发表于 2025-3-22 02:53:28 | 显示全部楼层
gpart then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to pat978-3-030-85512-3978-3-030-85510-9
发表于 2025-3-22 06:11:02 | 显示全部楼层
Out of Sequence: Genome-Scale Testing,lude the variability of the human genome (some principles for assigning pathogenicity to sequence variants are outlined), and the underlying biological complexity of common disorders. Probabilistic factors and the problem of false positives in screening tests are also considered.
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Kant and the Problem of Metaphysicsmal dominant disorder caused by a trinucleotide repeat expansion, which gives rise to a toxic gain of function. The dynamics of repeat expansions are touched on, and the relevant laboratory testing methods are described. A second condition, familial hypercholesterolaemia caused by . gene mutations,
发表于 2025-3-22 19:47:49 | 显示全部楼层
The Self-Assertion of the German Universitye disorder, and the mutation spectrum is described. The persistence of recessive conditions in a population is explained with reference to heterozygote advantage and founder effects. (These concepts, and that of penetrance, are explored further in a brief section on the recessive disorder hereditary
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Kant and the Problem of Metaphysics A distinction is made in this chapter between acquired cancer and cancer due to an inherited predisposition, but both are equally genetic in origin (and in practice there are, as in all things, grey areas and overlap between the two groups). Tumor suppressor genes (. and . are the examples used) ar
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Technology and the Ambiguity of Productionort tandem repeats). Some of the applications that depend on testing these unique combinations of variable DNA sequences in an individual are introduced (including confirmation of sample identity, controlling for errors in prenatal diagnosis, establishing zygosity in twins, and monitoring bone marro
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