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Next Generation Sequencing (Record no. 17660)

000 -LEADER
fixed length control field 03796nam a22004455i 4500
003 - CONTROL NUMBER IDENTIFIER
control field OSt
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20140310150238.0
007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION
fixed length control field cr nn 008mamaa
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 130531s2013 xxu| s |||| 0|eng d
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
International Standard Book Number 9781461470014
978-1-4614-7001-4
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 Wong, Lee-Jun C.
Relator term editor.
245 10 - IMMEDIATE SOURCE OF ACQUISITION NOTE
Title Next Generation Sequencing
Medium [electronic resource] :
Remainder of title Translation to Clinical Diagnostics /
Statement of responsibility, etc edited by Lee-Jun C. Wong.
300 ## - PHYSICAL DESCRIPTION
Extent XI, 302 p. 33 illus., 27 illus. in color.
Other physical details online resource.
505 0# - FORMATTED CONTENTS NOTE
Formatted contents note Part I: Overview.- History of DNA Sequencing Technologies -- Clinical Molecular Diagnostic Techniques: A Brief Review -- Part II: The Technologies and Bioinformatics -- Methods of Gene Enrichment and Massively Parallel Sequencing Technologies -- Sequence Alignment, Analysis, and Bioinformatics Pipelines -- Protein Structural Based Analysis for Variant Interpretation of Missense Variants at the Genomics Era: Using MNGIE Disease as an Example -- Algorithms and Guidelines for Interpretation of DNA Variants -- Part III: Application to Clinical Diagnostics -- NGS-based Clinical Diagnosis of Genetically Heterogeneous Disorders -- Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG) -- NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID) -- NGS Analysis of Heterogeneous Retinitis Pigmentosa -- Next Generation Sequencing of the Whole Mitochondrial Genome -- Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders -- Noninvasive Prenatal Diagnosis Using Next Generation Sequencing -- Part IV: Compliance with CAP/CLIA Regulations -- Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance -- Validation of NGS-based Test and Implementation of Quality Control Procedures -- Frequently Asked Questions about the Clinical Utility of Next Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases -- Index.
520 ## - SUMMARY, ETC.
Summary, etc In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality.  Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences.  This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders.  This book covers topics of these applications, including potential limitations and expanded application in the future.    
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 Bioinformatics.
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 Bioinformatics.
Topical term or geographic name as entry element Biomedicine general.
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 9781461470007
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier http://dx.doi.org/10.1007/978-1-4614-7001-4
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Source of classification or shelving scheme
Item type E-Book
Copies
Price effective from Permanent location Date last seen Not for loan Date acquired Source of classification or shelving scheme Koha item type Damaged status Lost status Withdrawn status Current location Full call number
2014-04-05AUM Main Library2014-04-05 2014-04-05 E-Book   AUM Main Library611.01816