Verfügbarkeit: Next generation sequencing

Next generation sequencing: translation to clinical diagnostics

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Bibliographische Detailangaben
Format:	Elektronisch E-Book
Sprache:	English
Veröffentlicht:	New York, NY Springer 2013
Schlagworte:	Medizin Medicine Human genetics Bioinformatics
Online-Zugang:	FAN01 UBT01 Volltext Inhaltsverzeichnis Abstract
Beschreibung:	1 Online-Ressource
ISBN:	9781461470007 9781461470014
DOI:	10.1007/978-1-4614-7001-4

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Datensatz im Suchindex

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adam_text	NEXT GENERATION SEQUENCING / : 2013 TABLE OF CONTENTS / INHALTSVERZEICHNIS 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 DIESES SCHRIFTSTUECK WURDE MASCHINELL ERZEUGT. NEXT GENERATION SEQUENCING / : 2013 ABSTRACT / INHALTSTEXT 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. DIESES SCHRIFTSTUECK WURDE MASCHINELL ERZEUGT.
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spelling	Next generation sequencing translation to clinical diagnostics Lee-Jun C. Wong, ed. New York, NY Springer 2013 1 Online-Ressource txt rdacontent c rdamedia cr rdacarrier Medizin Medicine Human genetics Bioinformatics Wong, Lee-Jun C. Sonstige oth https://doi.org/10.1007/978-1-4614-7001-4 Verlag Volltext Springer Fremddatenuebernahme application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=026045400&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis Springer Fremddatenuebernahme application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=026045400&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA Abstract
spellingShingle	Next generation sequencing translation to clinical diagnostics Medizin Medicine Human genetics Bioinformatics
title	Next generation sequencing translation to clinical diagnostics
title_auth	Next generation sequencing translation to clinical diagnostics
title_exact_search	Next generation sequencing translation to clinical diagnostics
title_full	Next generation sequencing translation to clinical diagnostics Lee-Jun C. Wong, ed.
title_fullStr	Next generation sequencing translation to clinical diagnostics Lee-Jun C. Wong, ed.
title_full_unstemmed	Next generation sequencing translation to clinical diagnostics Lee-Jun C. Wong, ed.
title_short	Next generation sequencing
title_sort	next generation sequencing translation to clinical diagnostics
title_sub	translation to clinical diagnostics
topic	Medizin Medicine Human genetics Bioinformatics
topic_facet	Medizin Medicine Human genetics Bioinformatics
url	https://doi.org/10.1007/978-1-4614-7001-4 http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=026045400&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=026045400&sequence=000003&line_number=0002&func_code=DB_RECORDS&service_type=MEDIA
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