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
- 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.
Auflage
Sprache
Verlagsgruppe
Elsevier HealthScience EN
Illustrationen
543 illustrations (543 in full color)
Dateigröße
ISBN-13
978-0-323-55328-5 (9780323553285)
Schweitzer Klassifikation
CHAPTER 1 IntroductionCHAPTER 2 Introduction to the Human GenomeCHAPTER 3 The Human Genome: Gene Structure and FunctionCHAPTER 4 Human Genetic Diversity: Genomic VariationCHAPTER 5 Principles of Clinical Cytogenetics and Genome AnalysisCHAPTER 6 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex ChromosomesCHAPTER 7 Patterns of Single-Gene InheritanceCHAPTER 8 Principles of Clinical EpigeneticsCHAPTER 9 Complex Inheritance of Common Multifactorial DisordersCHAPTER 10 Population Genetics for Genomic MedicineCHAPTER 11 Identifying the Genetic Basis for Human DiseaseCHAPTER 12 The Molecular Basis of Genetic DiseaseCHAPTER 13 The Molecular, Biochemical, and Cellular Basis of Genetic DiseaseCHAPTER 14 The Treatment of Genetic DiseaseCHAPTER 15 Developmental Genetics and Birth DefectsCHAPTER 16 Cancer Genetics and GenomicsCHAPTER 17 Genetic Counseling and Risk AssessmentCHAPTER 18 Preconception and Prenatal Screening and DiagnosisCHAPTER 19 Application of Genomics to Medicine and Individualized Health CareCHAPTER 20 Ethical and Social Issues in Genetics and GenomicsClinical Case Studies Illustrating Genetic PrinciplesGlossaryAnswers to ProblemsIndex