Main description:

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.

Contents:

Sources and Acknowledgments
1 Introduction
2 Introduction to the Human Genome
3 The Human Genome: Gene Structure and Function
4 Human Genetic Diversity: Genomic Variation
5 Principles of Clinical Cytogenomics and Genome Analysis
6 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes
7 Patterns of Single-Gene Inheritance
8 Complex Inheritance of Common Multifactorial Disorders
9 Genetic Variation in Populations
10 Identifying the Genetic Basis for Human Disease
11 The Molecular Basis of Genetic Disease
12 The Molecular, Biochemical, and Cellular Basis of Genetic Disease
13 The Treatment of Genetic Disease
14 Developmental Genetics and Birth Defects
15 Cancer Genetics and Genomics
16 Risk Assessment and Genetic Counseling
17 Preconception and Prenatal Screening and Diagnosis
18 Application of Genomics to Medicine and Individualized Health Care
19 Ethical and Social Issues in Genetics and Genomics
Epigenetics
Cases: Clinical Case Studies Illustrating Genetic Principles
Glossary
Answers to Problems
Index