Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

Human Mutation

Volumn 36, Issue 3, 2015, Pages 379-387

  De Leeneer, Kim ^a   Hellemans, Jan ^b   Steyaert, Wouter ^a   Lefever, Steve ^a   Vereecke, Inge ^a   Debals, Eveline ^a   Crombez, Brecht ^a   Baetens, Machteld ^a   Van Heetvelde, Mattias ^a   Coppieters, Frauke ^a   Vandesompele, Jo ^a,b   De Jaegher, Annelies ^a   De Baere, Elfride ^a   Coucke, Paul ^a   Claes, Kathleen ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b Biogazelle NV   (Belgium)

Author keywords

Clinical implementation; ISO15189 accreditation; NGS; Targeted resequencing; Uniform target enrichment

Indexed keywords

ARTICLE; AUTOMATION; BENCHTOP NEXT GENERATION SEQUENCING INSTRUMENT; CLINICAL PRACTICE; COST EFFECTIVENESS ANALYSIS; DATA ANALYSIS SOFTWARE; GENETIC ANALYZER; GENETIC VARIABILITY; HUMAN; MONOGENIC DISORDER; NEXT GENERATION SEQUENCING; POLYMERASE CHAIN REACTION; POLYMERASE CHAIN REACTION SYSTEM; PREDICTIVE VALUE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; SOMATIC MUTATION; TURNAROUND TIME; WORKFLOW; DNA SEQUENCE; GENETIC DISEASES, INBORN; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES; PROGNOSIS;

GENETIC DISEASES, INBORN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; PROGNOSIS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 84924546515     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22739     Document Type: Article

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