東華大學圖書館 |

Language: English

Help

回圖書館首頁

手機版館藏查詢

Back

Switch To: Labeled | MARC Mode | ISBD

Human chromosome variation = heterom...

Wilson, Golder N.

Linked to FindBook

Google Book

Amazon

博客來

Human chromosome variation = heteromorphism, polymorphism and pathogenesis /

Record Type:	Electronic resources : Monograph/item
Title/Author:	Human chromosome variation/ by Herman E. Wyandt, Golder N. Wilson, Vijay S. Tonk.
Reminder of title:	heteromorphism, polymorphism and pathogenesis /
Author:	Wyandt, Herman E.
other author:	Wilson, Golder N.
Published:	Singapore :Springer Singapore : : 2017.,
Description:	xx, 490 p. :ill., digital ;24 cm.
[NT 15003449]:	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.
Contained By:	Springer eBooks
Subject:	Human genetics - Variation. -
Online resource:	http://dx.doi.org/10.1007/978-981-10-3035-2
ISBN:	9789811030352

Human chromosome variation = heteromorphism, polymorphism and pathogenesis /
Wyandt, Herman E.

Human chromosome variationheteromorphism, polymorphism and pathogenesis /[electronic resource] :by Herman E. Wyandt, Golder N. Wilson, Vijay S. Tonk. - 2nd ed. - Singapore :Springer Singapore :2017. - xx, 490 p. :ill., digital ;24 cm.

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.

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.

ISBN: 9789811030352

Standard No.: 10.1007/978-981-10-3035-2doiSubjects--Topical Terms:

560726
Human genetics
--Variation.

LC Class. No.: QH431

Dewey Class. No.: 599.935

Human chromosome variation = heteromorphism, polymorphism and pathogenesis /
LDR:03905nmm a2200337 a 4500 001 2092498
003 DE-He213
005 20170328071250.0
006 m d
007 cr nn 008maaau
008 171117s2017 si s 0 eng d
020 $a 9789811030352 $q (electronic bk.)
020 $a 9789811030345 $q (paper)
024 7 $a 10.1007/978-981-10-3035-2 $2 doi
035 $a 978-981-10-3035-2
040 $a GP $c GP
041 0 $a eng
050 4 $a QH431
072 7 $a MFN $2 bicssc
072 7 $a MED107000 $2 bisacsh
072 7 $a SCI029000 $2 bisacsh
082 0 4 $a 599.935 $2 23
090 $a QH431 $b .W974 2017
100 1 $a Wyandt, Herman E. $3 3226427
245 1 0 $a Human chromosome variation $h [electronic resource] : $b heteromorphism, polymorphism and pathogenesis / $c by Herman E. Wyandt, Golder N. Wilson, Vijay S. Tonk.
250 $a 2nd ed.
260 $a Singapore : $b Springer Singapore : $b Imprint: Springer, $c 2017.
300 $a xx, 490 p. : $b ill., digital ; $c 24 cm.
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.
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.
650 0 $a Human genetics $x Variation. $3 560726
650 1 4 $a Biomedicine. $3 890831
650 2 4 $a Gene Function. $3 1067308
650 2 4 $a General Practice / Family Medicine. $3 893976
700 1 $a Wilson, Golder N. $3 3226428
700 1 $a Tonk, Vijay S. $3 3226429
710 2 $a SpringerLink (Online service) $3 836513
773 0 $t Springer eBooks
856 4 0 $u http://dx.doi.org/10.1007/978-981-10-3035-2
950 $a Biomedical and Life Sciences (Springer-11642)