Medical Genetics and Genomics - Elsevier E-Book on VitalSource, 7th Edition

by Lynn B. Jorde, PhD, John C. Carey, MD, MPH and Michael J. Bamshad, MD

Elsevier eBook on VitalSource

ISBN: 9780443505898

Page Count: 350

Imprint: Elsevier

List Price: $55.99

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Expected availability date: 07-13-2026

Known for its up-to-date coverage of both basic science and clinical application, Medical Genetics and Genomics, 7th Edition, has been fully revised to reflect recent advances in the genetics of common diseases, as well as current progress in genetic testing and gene therapy. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more—all designed to enhance effective learning and retention of complex material.

Key Features
- Discusses topical issues such as polygenic scores and their potential uses in the diagnosis and treatment of diseases such as diabetes, cancer, and heart disease, along with the latest advancements in sequencing technologies and their role in genetic testing and diagnosis
- Provides an up-to-date discourse on the modes and applications of genetic testing
- Contains useful concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment
- Features a larger quantity of Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses
- Uses examples of diseases to illustrate important concepts, demonstrating their relevance to medicine
- Study questions for self-assessment are provided within the print book, as well as 200 additional USMLE-style questions online
- An eBook version is included with purchase. The eBook allows you to access all of the text and figures, with the ability to search, customize your content, make notes and highlights, and have content read aloud
Related Products
- 7th Edition
  Evolve Resources for Medical Genetics and Genomics
  Resources
  
  ISBN: 9780443411809
Contents

1. Background and History
2. Basic Cell Biology: Structure and Function of Genes and Chromosomes
3. Genetic Variation: Its Origin and Detection
4. Autosomal Dominant and Recessive Inheritance
5. Sex-Linked and Nontraditional Modes of Inheritance
6. Clinical Cytogenetics: The Chromosomal Basis of Human Disease
7. Biochemical Genetics: Disorders of Metabolism
8. Disease-Gene Identification
9. Immunogenetics
10. Genetic Basis of Development
11. Cancer Genetics
12. Multifactorial Inheritance and Common Diseases
13. Genetic Testing and Gene Therapy
14. Genetics and Precision Medicine
15. Clinical Genetics and Genetic Counseling
Authors

Lynn B. Jorde, PhD, Professor, Mark and Kathie Miller Presidential Chair, Department of Human Genetics,University of Utah Health Sciences Center, Salt Lake City, UT, USA, John C. Carey, MD, MPH, Professor, Division of Medical Genetics, Department of Pediatrics,University of Utah Health Sciences Center, Salt Lake City, UT, USA and Michael J. Bamshad, MD, Professor, Division of Genetic Medicine, Department of Pediatrics,University of Utah Health Sciences Center, Salt Lake City, UT, USA
Accessibility
- Ways of Reading
  - The appearance of the text and page layout can be modified according to the capabilities of the reading system (font family and font size, spaces between paragraphs, sentences, words, and letters, as well as color of background and text)
  - This e-publication is accessible to the full extent that the file format and types of content allow, on a specific reading device, by default, without necessarily including any additions such as textual descriptions of images or enhanced navigation
  - All content can be read as read aloud speech or dynamic braille
- Conformance
  - The certifier's credential is https://bornaccessible.benetech.org/certified-publishers/
  - For detailed accessibility information, see Elsevier's website at https://www.elsevier.com/about/accessibility
  - For queries regarding accessibility information, contact [email protected]
  - The publication was certified on 03-03-2026
- Navigation
  - Table of contents to all chapters of the text via links
  - Page list to go to pages from the print source version
- Rich Content
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- Additional Accessibility Information
  - Content is enhanced with ARIA roles to optimize organization and facilitate navigation
  - Page breaks included from the original print source
  - For readers with color vision deficiency, use of color (e.g., in diagrams, graphics and charts, in prompts, or on buttons inviting a response) is not the sole means of graphical distinction or of conveying information
  - The body text is presented with a contrast ratio of at least 4.5:1 (or 3:1 for large/heading text)
  - Ultra-high contrast between text and background
  - E-publication includes basic navigation (usually less detailed than TOC-based navigation)
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