Next Generation Sequencing (Record no. 95819)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03883nam a22004695i 4500 |
| 001 - CONTROL NUMBER | |
| control field | 978-1-4614-7001-4 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20140220082827.0 |
| 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 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/978-1-4614-7001-4 |
| Source of number or code | doi |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RB155-155.8 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | QH431 |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MFN |
| Source | bicssc |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MED107000 |
| Source | bisacsh |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 611.01816 |
| Edition number | 23 |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 599.935 |
| Edition number | 23 |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Wong, Lee-Jun C. |
| Relator term | editor. |
| 245 10 - TITLE STATEMENT | |
| Title | Next Generation Sequencing |
| Medium | [electronic resource] : |
| Remainder of title | Translation to Clinical Diagnostics / |
| Statement of responsibility, etc | edited by Lee-Jun C. Wong. |
| 264 #1 - | |
| -- | New York, NY : |
| -- | Springer New York : |
| -- | Imprint: Springer, |
| -- | 2013. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | XI, 302 p. 33 illus., 27 illus. in color. |
| Other physical details | online resource. |
| 336 ## - | |
| -- | text |
| -- | txt |
| -- | rdacontent |
| 337 ## - | |
| -- | computer |
| -- | c |
| -- | rdamedia |
| 338 ## - | |
| -- | online resource |
| -- | cr |
| -- | rdacarrier |
| 347 ## - | |
| -- | text file |
| -- | |
| -- | rda |
| 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. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Human genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Bioinformatics. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Biomedicine. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Human Genetics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Bioinformatics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| 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 |
| 912 ## - | |
| -- | ZDB-2-SBL |
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