Diagnostic applications of next generation sequencing: Working towards quality standards

LaboratoriumsMedizin

Volumn 36, Issue 4, 2012, Pages 227-239

  Vog, Ina ^a   Eck, Sebastian H ^a   Benet Pagès, Anna ^b   Greif, Philipp A ^c,d   Hirv, Kaimo ^a   Kotschote, Stefan ^e   Kuhn, Marius ^f   Gehring, Andrea ^g   Bergmann, Carsten ^h   Bolz, Hanno Jörn ^h   Stuhrmann, Manfred ⁱ   Biskup, Saskia ^j   Metzeler, Klaus H ^d   Klein, Hanns Georg ^a,e  

^a Center for Human Genetics and Laboratory Medicine Dr Klein   (Germany)

^b Medizinisch Genetisches Zentrum München MGZ   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d Laboratory of Leukemia Diagnostics   (Germany)

^e IMGM LABORATORIES GMBH   (Germany)

^f Genetikum   (Germany)

^g UNIVERSITY OF WÜRZBURG   (Germany)

^h Bioscientia Center for Human Genetics   (Germany)

ⁱ HANNOVER MEDICAL SCHOOL   (Germany)

^j CEGAT GMBH   (Germany)

more..

Author keywords

Bioinformatics; Genetic variation; Illumina; Library preparation; Life Technologies; Molecular genetic diagnostics; Molecular genetics; Next generation sequencing (NGS); Rare diseases; Roche

Indexed keywords

AMPLICON; ANALYTICAL EQUIPMENT; ANALYZER; ARTICLE; AUTOMATION; BIOINFORMATICS; CAMERA; CAPILLARY ELECTROPHORESIS; CONTAMINATION; COST BENEFIT ANALYSIS; COVARIS ISOTHERMAL SONICATION; DATA ANALYSIS; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST; DNA BASE COMPOSITION; DNA DETERMINATION; ENRICHMENT CULTURE; FALSE POSITIVE RESULT; FLUOROMETER; GEL ELECTROPHORESIS; HEALTH CARE QUALITY; HIGH THROUGHPUT SEQUENCING; HUMAN; HYBRIDIZATION; LABORATORY DEVICE; MICROTITER PLATE ASSAY; MOLECULAR DIAGNOSIS; NEBULIZATION; NEXT GENERATION SEQUENCING; POLYMERASE CHAIN REACTION; QUALITY CONTROL; SEQUENCE ALIGNMENT; SEQUENCING BATCH REACTOR; SEQUENCING BY SYNTHESIS; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLEPLEX POLYMERASE CHAIN REACTION; STANDARD; ULTRASOUND; ULTRASOUND SCANNER; VALIDATION PROCESS; WORKFLOW;

EID: 84869474946     PISSN: 03423026     EISSN: 14390477     Source Type: Journal    
DOI: 10.1515/labmed-2011-0032     Document Type: Article

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