The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing.
This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.
|Edition description:||2nd ed. 2017|
|Product dimensions:||6.10(w) x 9.25(h) x (d)|
Table of Contents
Part I Human Chromosome Methods and Nomenclature
2. Chromosome Heteromorphism
3. Frequencies of Heteromorphisms
4. Clinical Populations
5. Euchromatic Variants6. Chromosome Heteromorphism (Summaries)
Part II. Genomics And DNA Polymorphism: Molecular Cytogenetics And DNA Diagnosis7. Fragile Sites
8. Chromosome Variation Detected by Fluorescent In Situ Hybridization (FISH)
9. Array-Comparative Genomic Hybridization/Microarray Analysis: Interpretation of Copy Number variants
10. A CNV Catalog11. Gene and Genome Sequencing: Interpreting Genetic Variation at the Nucleotide Level