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 examination- 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
Table of Contents
1. Introduction2. Introduction to the Human Genome3. The Human Genome: Gene Structure and Function4. Human Genetic Diversity: Genomic Variation5. Principles of Clinical Cytogenetics and Genome Analysis6. The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes7. Patterns of Single-Gene Inheritance8. Principles of Clinical Epigenetics9. Complex Inheritance of Common Multifactorial Disorders10. Population Genetics for Genomic Medicine11 .Identifying the Genetic Basis for Human Disease12. The Molecular Basis of Genetic Disease13. The Molecular, Biochemical, and Cellular Basis of Genetic Disease14. The Treatment of Genetic Disease15. Developmental Genetics and Birth Defects16. Cancer Genetics and Genomics17. Genetic Counseling and Risk Assessment18. Preconception and Prenatal Screening and Diagnosis19. Application of Genomics to Medicine and Individualized Health Care20. Ethical and Social Issues in Genetics and Genomics
