Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

Nature Biotechnology

Volumn 29, Issue 6, 2011, Pages 512-520

  Pinto, Dalila ^a   Darvishi, Katayoon ^b   Shi, Xinghua ^b   Rajan, Diana ^c   Rigler, Diane ^c   Fitzgerald, Tom ^c   Lionel, Anath C ^a   Thiruvahindrapuram, Bhooma ^a   MacDonald, Jeffrey R ^a   Mills, Ryan ^b   Prasad, Aparna ^a   Noonan, Kristin ^b,d   Gribble, Susan ^c   Prigmore, Elena ^c   Donahoe, Patricia K ^d   Smith, Richard S ^b   Park, Ji Hyeon ^b,g   Hurles, Matthew E ^c   Carter, Nigel P ^c   Lee, Charles ^b   Scherer, Stephen W ^a,e   Feuk, Lars ^f   more..

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e UNIVERSITY OF TORONTO   (Canada)

^f UPPSALA UNIVERSITY   (Sweden)

^g CHA University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ANALYSIS TOOLS; ANALYTIC TOOLS; BREAKPOINT; CLINICAL DATA; CLINICAL DIAGNOSTICS; COMPREHENSIVE ASSESSMENT; COPY NUMBER; DATA CURATION; DATA EVALUATION; DATA QUALITY; GENOMIC REGIONS; REPRODUCIBILITIES;

ALGORITHMS; RATING;

QUALITY CONTROL;

ACCURACY; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; GENE DELETION; GENETIC ALGORITHM; GENETIC VARIABILITY; GOLD STANDARD; HUMAN; HUMAN GENOME PROJECT; MICROARRAY ANALYSIS; PRIORITY JOURNAL; QUALITY CONTROL; REPRODUCIBILITY; SIGNAL NOISE RATIO; SINGLE NUCLEOTIDE POLYMORPHISM;

ALGORITHMS; COMPARATIVE GENOMIC HYBRIDIZATION; DATABASES, GENETIC; DNA COPY NUMBER VARIATIONS; GENETIC ASSOCIATION STUDIES; GENOME; GENOTYPE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; SOFTWARE;

EID: 79958162661     PISSN: 10870156     EISSN: 15461696     Source Type: Journal    
DOI: 10.1038/nbt.1852     Document Type: Article

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