cnvScan: A CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data

BMC Genomics

Volumn 17, Issue 1, 2016, Pages

  Samarakoon, Pubudu Saneth ^a   Sorte, Hanne Sørmo ^a   Stray Pedersen, Asbjørg ^a,b,c   Rødningen, Olaug Kristin ^a   Rognes, Torbjørn ^a,d   Lyle, Robert ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF OSLO   (Norway)

Author keywords

CNV; Exome; Mutation detection

Indexed keywords

ARTICLE; CLINICAL ASSESSMENT TOOL; CONTROLLED STUDY; COPY NUMBER VARIATION; EXOME; GENE SEQUENCE; GENE TECHNOLOGY; GENETIC DATABASE; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; IMMUNE DEFICIENCY; MATHEMATICAL COMPUTING; NEXT GENERATION SEQUENCING; PREDICTION; SCORING SYSTEM; ALGORITHM; EXON; FEMALE; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; MOLECULAR GENETICS; MUTATION;

ALGORITHMS; DNA COPY NUMBER VARIATIONS; EXOME; EXONS; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MOLECULAR SEQUENCE ANNOTATION; MUTATION;

EID: 84954286433     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/s12864-016-2374-2     Document Type: Article

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