標(biāo)題: Titlebook: Diagnostic Genetic Testing; Core Concepts and th David Bourn Book 2022 The Editor(s) (if applicable) and The Author(s), under exclusive lic [打印本頁] 作者: 炸彈 時(shí)間: 2025-3-21 18:12
書目名稱Diagnostic Genetic Testing影響因子(影響力)
作者: 單色 時(shí)間: 2025-3-21 22:36
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作者: Myelin 時(shí)間: 2025-3-22 02:53
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作者: 昏迷狀態(tài) 時(shí)間: 2025-3-22 06:11
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.作者: 詞根詞綴法 時(shí)間: 2025-3-22 10:43 作者: 情感脆弱 時(shí)間: 2025-3-22 15:20
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, 作者: 情感脆弱 時(shí)間: 2025-3-22 19:47
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作者: BIBLE 時(shí)間: 2025-3-22 23:05 作者: 品牌 時(shí)間: 2025-3-23 02:40
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作者: 裝勇敢地做 時(shí)間: 2025-3-23 08:59
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作者: Anguish 時(shí)間: 2025-3-23 11:42
Technology and the Ambiguity of Productionnd sequencing approaches), the basics of Sanger sequencing are reviewed. The agreed universal system for mutation nomenclature is outlined. The central part of the chapter covers current uses of genome-scale sequencing. These include general mutation screening for rare disease and cancer, trio analy作者: Resistance 時(shí)間: 2025-3-23 14:55 作者: DAMP 時(shí)間: 2025-3-23 19:04 作者: jagged 時(shí)間: 2025-3-23 22:49 作者: dagger 時(shí)間: 2025-3-24 02:34
David BournExplores 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作者: 思鄉(xiāng)病 時(shí)間: 2025-3-24 07:44 作者: 艦旗 時(shí)間: 2025-3-24 13:32 作者: 土坯 時(shí)間: 2025-3-24 15:17
Autosomal Dominant Inheritance and Huntington Disease,mal 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, 作者: Folklore 時(shí)間: 2025-3-24 21:35
Autosomal Recessive Inheritance and Cystic Fibrosis,e 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作者: antenna 時(shí)間: 2025-3-25 01:29 作者: Obverse 時(shí)間: 2025-3-25 05:25
Genetic Testing in Cancer, 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作者: 法律 時(shí)間: 2025-3-25 08:28 作者: graphy 時(shí)間: 2025-3-25 14:16
Out of Sequence: Genome-Scale Testing,nd sequencing approaches), the basics of Sanger sequencing are reviewed. The agreed universal system for mutation nomenclature is outlined. The central part of the chapter covers current uses of genome-scale sequencing. These include general mutation screening for rare disease and cancer, trio analy作者: Mindfulness 時(shí)間: 2025-3-25 17:37
DNA Testing: Pulling the Strands Together,de on laboratory genetics as a scientific discipline. An overview is attempted of some of the main professional and ethical responsibilities for diagnostic geneticists, touching on issues of providing benefit to the patient, consent, autonomy and avoiding harm (potential harms including the risk of 作者: 抗生素 時(shí)間: 2025-3-25 21:34 作者: 典型 時(shí)間: 2025-3-26 00:16
The Self-Assertion of the German Universitynheritance (autosomal dominant, autosomal recessive, X-linked and mitochondrial) are introduced. The final part of the chapter gives a succinct description of some of the basic methodology of diagnostic DNA analysis, including microarrays, the polymerase chain reaction, electrophoresis and DNA sequencing.作者: Liberate 時(shí)間: 2025-3-26 06:35
Kant and the Problem of Metaphysicsg are also addressed, including sensitivity, specificity and sources of laboratory error. Ethical questions raised by testing for this late-onset disorder are highlighted at the end of the chapter, largely around the sharing of genetic information.作者: 錯(cuò)誤 時(shí)間: 2025-3-26 10:35 作者: 令人作嘔 時(shí)間: 2025-3-26 16:23 作者: vanquish 時(shí)間: 2025-3-26 18:49 作者: Champion 時(shí)間: 2025-3-26 23:22 作者: 捐助 時(shí)間: 2025-3-27 02:48 作者: Corral 時(shí)間: 2025-3-27 08:01 作者: 痛恨 時(shí)間: 2025-3-27 10:58 作者: 傳染 時(shí)間: 2025-3-27 14:04
Autosomal Recessive Inheritance and Cystic Fibrosis, these investigations. A brief overview of prenatal diagnosis emphasises the deep ethical questions raised by such testing. New specific therapies for cystic fibrosis are mentioned. The final part of the chapter discusses elements of risk and uncertainty, and the use of Bayesian statistics to refine probabilities.作者: Highbrow 時(shí)間: 2025-3-27 21:28
X-linked Inheritance: A Question of Gender,s (and of a method for determining patterns of X-inactivation) are introduced. The final part of the chapter discusses to what extent a genetic viewpoint is useful in clarifying wider questions of gender.作者: 高調(diào) 時(shí)間: 2025-3-28 01:29 作者: 從屬 時(shí)間: 2025-3-28 05:12 作者: Euthyroid 時(shí)間: 2025-3-28 09:57
DNA Testing: Pulling the Strands Together,eded (encompassing more than solely facilitating management of a condition). The final parts of the chapter are concerned with the uses and misuses of genetic language and the need for a better societal understanding of the benefits and limitations of genetic testing.作者: octogenarian 時(shí)間: 2025-3-28 10:38
