New
Medical Genetics and Genomics,
Edition 7Editors: By Lynn B. Jorde, PhD, John C. Carey, MD, MPH and Michael J. Bamshad, MD
Publication Date:
13 Jul 2026
Conformance
-
PDF/UA-1
-
The publication contains a conformance statement that it meets the EPUB Accessibility 1.1, WCAG 2.1, Level AA standard. Please see https://bornaccessible.benetech.org/certified-publishers/ for further details of our compatibility testing.
-
The publication was certified on 20250728
-
Accessibility addendum
-
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
-
Compatibility tested
-
For queries regarding accessibility information, contact [email protected]
Ways Of Reading
-
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.
-
Short alternative textual descriptions
-
Information-rich images are described by extended descriptions
-
All contents of the digital publication necessary to use and understanding, including any text, images (via alternative descriptions), video (via audio description) is fully accessible via suitable audio reproduction.
Navigation
-
The contents of the PDF have been tagged to permit access by assistive technologies as per PDF-UA-1 standard.
-
Index with links to referenced entries
-
Page breaks included from the original print source
Additional Accessibility Information
-
All (or substantially all) textual matter is arranged in a single logical reading order (including text that is visually presented as separate from the main text flow, e.g., in boxouts, captions, tables, footnotes, endnotes, citations, etc.). Non-textual content is also linked from within this logical reading order. (Purely decorative non-text content can be ignored).
-
The language of the text has been specified (e.g., via the HTML or XML lang attribute) to optimise text-to-speech (and other alternative renderings), both at the whole document level and, where appropriate, for individual words, phrases or passages in a different language.
-
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
-
Content is enhanced with ARIA roles to optimize organization and facilitate navigation
-
Where interactive content is included in the product, controls are provided (e.g., for speed, pause and resume, reset) and labelled to make their use clear.
-
Content provides explanations for unusual words, abbreviations, acronyms, idioms, jargon in an accessible form, such as glossaries, scripted pop-ups.
Product Content
-
Content includes any type of illustrations.
-
The primary content is text.
-
Content includes maps and/or other cartographic content.
-
Content includes a significant number of actionable (clickable) web links to external content, downloadable resources, supplementary material, etc.
-
Content includes a significant number of actionable (clickable) cross-references, hyperlinked notes and annotations, or with other actionable links between largely textual elements (e.g., quiz/test questions, ‘choose your own ending’, etc.).
-
Content includes supplementary text as promotional content such as, for example, a teaser chapter.
-
Content includes photographs, whether in a plate section / insert or not.
-
Content includes figures, diagrams, charts and/or graphs, including other ‘mechanical’ (i.e. non-photographic) illustrations.
-
Content includes a significant number of web links (printed URLs, QR codes etc.).
-
Text within images
-
Content includes visual content that is purely decorative and is not necessary to understanding of the content.
-
Content includes mathematical notations, formulae.
-
Product includes actionable (clickable) links to external interactive content.
Note
-
This product relies on 3rd party tooling which may impact the accessibility features visible in inspection copies. All accessibility features mentioned would be present in the purchased version of the title.
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
About the author
By 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
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
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
ISBN:
9780443115165
Page Count:
350
Retail Price (USD)
:
Medical students