CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

Human Mutation

Volumn 37, Issue 5, 2016, Pages 457-464

  Johansson, Lennart F ^a   van Dijk, Freerk ^a   de Boer, Eddy N ^a   van Dijk Bos, Krista K ^a   Jongbloed, Jan D H ^a   van der Hout, Annemieke H ^a   Westers, Helga ^a   Sinke, Richard J ^a   Swertz, Morris A ^a   Sijmons, Rolf H ^a   Sikkema Raddatz, Birgit ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Clinical diagnostics; CNV; Exon deletion duplication; NGS; Targeted next generation sequencing

Indexed keywords

ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; GENE DELETION; GENE DUPLICATION; GENE TARGETING; GENETIC VARIABILITY; HUMAN; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; QUALITY CONTROL; SENSITIVITY AND SPECIFICITY; DNA SEQUENCE; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; PROCEDURES; REPRODUCIBILITY; SOFTWARE; STANDARDS;

DATABASES, GENETIC; DNA COPY NUMBER VARIATIONS; EXONS; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; SOFTWARE;

EID: 84959432964     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22969     Document Type: Article

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