VisCap: Inference and visualization of germ-line copy-number variants from targeted clinical sequencing data

Genetics in Medicine

Volumn 18, Issue 7, 2016, Pages 712-719

  Pugh, Trevor J ^a,b   Amr, Sami S ^c,d,e   Bowser, Mark J ^c   Gowrisankar, Sivakumar ^c   Hynes, Elizabeth ^c   Mahanta, Lisa M ^c   Rehm, Heidi L ^c,d,e   Funke, Birgit ^c,d,e   Lebo, Matthew S ^c,d,e  

^a PRINCESS MARGARET HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c LABORATORY FOR MOLECULAR MEDICINE   (United States)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

Author keywords

copy number variation; germ line; molecular genetics; targeted clinical sequencing; VisCap; visualization

Indexed keywords

CLINICAL LABORATORY; COMPUTER PROGRAM; COPY NUMBER VARIATION; DNA SEQUENCE; FOLLOW UP; GENE AMPLIFICATION; GERM LINE; HUMAN; MAJOR CLINICAL STUDY; NEXT GENERATION SEQUENCING; POLYMERASE CHAIN REACTION; SCORING SYSTEM; WORKFLOW; GENETICS; GERMLINE MUTATION; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MOLECULAR PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SOFTWARE;

DNA COPY NUMBER VARIATIONS; GENOME, HUMAN; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; PATHOLOGY, MOLECULAR; POLYMORPHISM, SINGLE NUCLEOTIDE; SOFTWARE;

EID: 84977137967     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.156     Document Type: Article

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