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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書目名稱Diagnostic Genetic Testing影響因子(影響力)




書目名稱Diagnostic Genetic Testing影響因子(影響力)學科排名




書目名稱Diagnostic Genetic Testing網(wǎng)絡公開度




書目名稱Diagnostic Genetic Testing網(wǎng)絡公開度學科排名




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書目名稱Diagnostic Genetic Testing被引頻次學科排名




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書目名稱Diagnostic Genetic Testing年度引用學科排名




書目名稱Diagnostic Genetic Testing讀者反饋




書目名稱Diagnostic Genetic Testing讀者反饋學科排名

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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

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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

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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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情感脆弱

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,

情感脆弱

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