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02951nam a22005055i 4500 |
| 003 - CONTROL NUMBER IDENTIFIER |
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| control field |
OSt |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20140310150239.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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| fixed length control field |
cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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131016s2013 xxu| s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| International Standard Book Number |
9781461490326 |
|
978-1-4614-9032-6 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
|---|
| Classification number |
RB155-155.8 |
|
|---|
| Classification number |
QH431 |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
|---|
| Classification number |
611.01816 |
| Edition number |
23 |
|
|---|
| Classification number |
599.935 |
| Edition number |
23 |
| 264 #1 - |
|---|
| -- |
New York, NY : |
| -- |
Springer New York : |
| -- |
Imprint: Springer, |
| -- |
2013. |
| 912 ## - |
|---|
| -- |
ZDB-2-SBL |
| 100 1# - MAIN ENTRY--PERSONAL NAME |
|---|
| Personal name |
Valencia, C. Alexander. |
| Relator term |
author. |
| 245 10 - IMMEDIATE SOURCE OF ACQUISITION NOTE |
|---|
| Title |
Next Generation Sequencing Technologies in Medical Genetics |
| Medium |
[electronic resource] / |
| Statement of responsibility, etc |
by C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang. |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
XII, 94 p. 5 illus. in color. |
| Other physical details |
online resource. |
| 440 1# - SERIES STATEMENT/ADDED ENTRY--TITLE |
|---|
| Title |
SpringerBriefs in Genetics, |
| International Standard Serial Number |
2191-5563 |
| 505 0# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
Sanger sequencing principles, history and landmarks -- A survey of next-generation sequencing technologies -- A review of DNA enrichment technologies -- Application of next-generation sequencing to the diagnosis of genetic disorders a brief overview -- Next-generation sequencing-based noninvasive prenatal diagnosis -- Diagnosis of inherited neuromuscular disorders by next-generation sequencing -- Application of next-generation sequencing in hearing loss diagnosis -- Exome sequencing as a discovery and a diagnostic tool -- Challenges of next-generation sequencing-based molecular diagnostics. |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc |
This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Medicine. |
|
|---|
| Topical term or geographic name as entry element |
Human genetics. |
|
|---|
| Topical term or geographic name as entry element |
Medical genetics. |
|
|---|
| Topical term or geographic name as entry element |
Biomedicine. |
|
|---|
| Topical term or geographic name as entry element |
Human Genetics. |
|
|---|
| Topical term or geographic name as entry element |
Gene Function. |
|
|---|
| Topical term or geographic name as entry element |
Biomedicine general. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Pervaiz, M. Ali. |
| Relator term |
author. |
|
|---|
| Personal name |
Husami, Ammar. |
| Relator term |
author. |
|
|---|
| Personal name |
Qian, Yaping. |
| Relator term |
author. |
|
|---|
| Personal name |
Zhang, Kejian. |
| Relator term |
author. |
| 710 2# - ADDED ENTRY--CORPORATE NAME |
|---|
| Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY |
|---|
| Title |
Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY |
|---|
| Display text |
Printed edition: |
| International Standard Book Number |
9781461490319 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
|---|
| Uniform Resource Identifier |
http://dx.doi.org/10.1007/978-1-4614-9032-6 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Source of classification or shelving scheme |
|
| Item type |
E-Book |
