Human chromosome variation : heteromorphism, polymorphism and pathogenesis

This new edition now titled "Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis" provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis...

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Bibliographic Details
Main Authors: Wyandt, Herman Edwin, 1939- (Author), Wilson, Golder, (Author), Tonk, Vijay S., (Author)
Format: eBook
Language: English
Published: Singapore : Springer, 2017.
Edition: Second edition. 9789811030352
Subjects:
Human genetics > Variation.
elektronické knihy
electronic books
ISBN: 9789811030352
9789811030345
Physical Description: 1 online resource : illustrations (some color)

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Table of contents

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100 1 |a Wyandt, Herman Edwin,  |d 1939-  |e author. 
245 1 0 |a Human chromosome variation :  |b heteromorphism, polymorphism and pathogenesis /  |c Herman E. Wyandt, Golder N. Wilson, Vijay S. Tonk. 
250 |a Second edition. 9789811030352 
264 1 |a Singapore :  |b Springer,  |c 2017. 
300 |a 1 online resource :  |b illustrations (some color) 
336 |a text  |b txt  |2 rdacontent 
337 |a počítač  |b c  |2 rdamedia 
338 |a online zdroj  |b cr  |2 rdacarrier 
504 |a Includes bibliographical references and index. 
505 0 |a Introduction -- Chromosome Heteromorphism -- Frequencies of Heteromorphisms -- Clinical Populations -- Euchromatic Variants -- Chromosome Heteromorphism (Summaries)- Fragile Sites -- Chromosome Variation Detected by Fluorescent In Situ Hybridization (FISH) -- Array-Comparative Genomic Hybridization/Microarray Analysis: Interpretation of Copy Number variants -- A CNV Catalog -- Gene and Genome Sequencing: Interpreting Genetic Variation at the Nucleotide Level. . 
506 |a Plný text je dostupný pouze z IP adres počítačů Univerzity Tomáše Bati ve Zlíně nebo vzdáleným přístupem pro zaměstnance a studenty 
520 |a This new edition now titled "Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis" provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. 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. 
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650 0 |a Human genetics  |x Variation. 
655 7 |a elektronické knihy  |7 fd186907  |2 czenas 
655 9 |a electronic books  |2 eczenas 
700 1 |a Wilson, Golder,  |e author. 
700 1 |a Tonk, Vijay S.,  |e author. 
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993 |x NEPOSILAT  |y EIZ 

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