Thompson&Thompson医学遗传学和基因组学第9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.

2024 | ISBN:0323547621|英文|612页| True PDF|92 MB Thompson and Thompson Genetics and Genomics in Medicine于1966年首次出版，现已成为医学生、遗传咨询学生、实验医学学生和更高级学员的必备教科书。这本书专注于人类遗传学和基因组学的基本原理及其在医学中的应用，为许多人提供了一个反复翻阅的资源。 这些学生可以继续依赖这篇有价值的文章，加入基因组数据分析新领域的学生行列，在他们的基础科学培训、临床实习和其他方面了解遗传学和基因组学。报道包括新发现，如非编码RNA的功能作用、染色质调节和表观遗传学，以及最新技术和它们所带来的新诊断。 在扩大的标题下，第九版由一个新的编辑团队进行了全面修订，该团队负责监督一大批撰稿人。支持小组还协助更新了以患有遗传病的人的美丽图像为特色的插图。 全面覆盖：生物学和医学中的基因组；拷贝数和结构基因组变异；新发现；最新技术；以及新的遗传诊断40多个临床病例研究，通过新的诊断策略捕捉到可变表达、多效性和复杂疾病的最新挑战。全彩文本、插图、更新的折线图和临床照片。章节末的问题和全面的答案挑战读者将材料整合到实践中，并为考试做准备。USMLE风格和多项选择题作为电子书的一部分提供。购买时包括增强版电子书。该电子书允许您访问所有文本、图表和参考文献，并能够搜索、定制您的内容、做笔记和突出显示，并大声朗读内容。更新和新的临床病例，由非营利组织提供摄影支持，积极暴露。关于测序和新功能检测在遗传病诊断和筛查中日益重要的作用的新内容。表观遗传学新章节更清晰，更精确的术语，以应对当代和不断发展的指南。新章节描述了来自不同人群的遗传信息的使用（和需求），包括独特的土著和创始人群，用于诊断和管理。

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