《Thompson & Thompson遗传学和基因组学在医学》第九版

2024 | ISBN: 0323547621 | English | 612 pages | True PDF | 92 MB

First published in 1966, Thompson and Thompson Genetics and Genomics in Medicine has become an essential textbook for medical students, genetic counseling students, students in laboratory medicine, and more advanced trainees. With its focus on fundamental principles in human genetics and genomics and their application to medicine, the book has served many as a well-thumbed resource they return to over and over.

Such students can continue to depend on this valuable text, joining those in newer fields of genome data analysis for all they need to know about genetics and genomics throughout their basic science training, clinical placements and beyond. Coverage includes new discoveries―such as the functional roles of non-coding RNAs, chromatin regulation and epigenetics―latest technologies, and new diagnoses they are enabling.

Under an expanded title, this ninth edition has been completely revised by a new editorial team overseeing a large cadre of contributing authors. Support groups have also assisted to update illustrations featuring beautiful images of those living with genetic conditions.

Comprehensive coverage of: genomes in biology and medicine; copy number and structural genomic variation; novel discoveries; latest technology; and new genetic diagnoses Over 40 clinical case studies, capturing the latest challenges of variable expression, pleiotropy, and complex disorders through new diagnostic strategies Full-color text, illustrations, updated line diagrams, and clinical photos End-of-chapter questions and comprehensive answers to challenge the reader to consolidate the material into practice and prepare for examinations USMLE-style and multiple choice questions available as part of the eBook An enhanced eBook version is included with purchase. The eBook allows you to access all the text, figures and references, with the ability to search, customize your content, make notes and highlights, and have content read aloud Updated and new clinical cases, supported with photography by the not-for-profit organization, Positive Exposure New content on growing role of sequencing and novel functional assays in diagnosis and screening of genetic conditions New chapter on Epigenetics Clearer and more precise terminology, in response to contemporary and evolving guidelines New sections describing the use (and need for) genetic information from diverse populations, including unique indigenous and founder populations, for diagnosis and management.

《Thompson和Thompson遗传学与基因组医学》一书自1966年首次出版以来，已成为医疗学生、遗传咨询学生、实验室医学学生等的必备教科书。该书专注于人类遗传学和基因组的基本原理及其在医学中的应用，为许多读者提供了一个反复使用的重要资源。

这样的学生可以在整个基础科学训练、临床实习和以后的学习中继续依赖这本宝贵的书籍，加入那些从事新一代基因数据分析的学生们。它涵盖了最新的发现——如非编码RNA的功能作用、染色质调节和表观遗传学——最新技术以及它们为诊断带来的新方法。

在扩大的书名下，这一第九版由新的编辑团队监督下的作者群进行了全面修订。支持小组还协助更新了那些患有遗传性疾病的个人的生活照片。

覆盖范围广泛：基因组在生物学和医学中的应用；拷贝数和结构基因变异；新发现；最新技术；以及新的遗传诊断。 超过40个临床案例研究，捕捉到了通过新的诊断策略应对可变表达、多效性和复杂疾病的新挑战。 全彩文本、插图、更新后的线条图和临床照片 每章末尾的问题以及全面的答案来检验读者是否能将材料转化为实践并为考试做准备 作为电子书的一部分提供的USMLE风格的习题和选择题 包括购买时提供的增强版电子书版本，该版本允许你访问所有文本、图形和参考，并且可以搜索、定制内容、添加笔记和高亮以及朗读内容。 更新和支持的新临床案例，由非营利组织Positive Exposure提供照片支持 新增关于基因检测和筛选中序列技术及新颖功能测定作用与价值的内容 新增的表观遗传学章节 对当代和不断演变的指南做出了更清晰且精确术语的回应 描述从不同人群（包括独特原住民和创始人群体）获取遗传信息的重要性及其在诊断和管理中的应用的新内容。

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