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.
Edited by:
Ronald Cohn,
Stephen Scherer,
Ada Hamosh
Imprint: Elsevier - Health Sciences Division
Country of Publication: United States
Edition: 9th edition
Dimensions:
Height: 276mm,
Width: 216mm,
Weight: 1.450kg
ISBN: 9780323547628
ISBN 10: 0323547621
Pages: 580
Publication Date: 26 June 2023
Audience:
College/higher education
,
Primary
Replaced By: 9781437706963
Format: Paperback
Publisher's Status: Active
CHAPTER 1 Introduction CHAPTER 2 Introduction to the Human Genome CHAPTER 3 The Human Genome: Gene Structure and Function CHAPTER 4 Human Genetic Diversity: Genomic Variation CHAPTER 5 Principles of Clinical Cytogenetics and Genome Analysis CHAPTER 6 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes CHAPTER 7 Patterns of Single-Gene Inheritance CHAPTER 8 Principles of Clinical Epigenetics CHAPTER 9 Complex Inheritance of Common Multifactorial Disorders CHAPTER 10 Population Genetics for Genomic Medicine CHAPTER 11 Identifying the Genetic Basis for Human Disease CHAPTER 12 The Molecular Basis of Genetic Disease CHAPTER 13 The Molecular, Biochemical, and Cellular Basis of Genetic Disease CHAPTER 14 The Treatment of Genetic Disease CHAPTER 15 Developmental Genetics and Birth Defects CHAPTER 16 Cancer Genetics and Genomics CHAPTER 17 Genetic Counseling and Risk Assessment CHAPTER 18 Preconception and Prenatal Screening and Diagnosis CHAPTER 19 Application of Genomics to Medicine and Individualized Health Care CHAPTER 20 Ethical and Social Issues in Genetics and Genomics Clinical Case Studies Illustrating Genetic Principles Glossary Answers to Problems Index
