Assessment of copy number variation using the Illumina Infinium 1M SNP-array: A comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study

Human Mutation

Volumn 32, Issue 2, 2011, Pages 240-248

  Marenne, Gaëlle ^a,b   Rodríguez Santiago, Benjamín ^c,d   Closas, Montserrat García ^e   Pérez Jurado, Luis ^c,d,f,g   Rothman, Nathaniel ^e   Rico, Daniel ^a   Pita, Guillermo ^a   Pisano, David G ^a   Kogevinas, Manolis ^h,i   Silverman, Debra T ^e   Valencia, Alfonso ^a   Real, Francisco X ^a   Chanock, Stephen J ^e   Génin, Emmanuelle ^b   Malats, Núria ^a  

^a Centro Nacional de Investigaciones Oncológicas   (Spain)

^b INSERM   (France)

^c UNIVERSITAT POMPEU FABRA   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e NATIONAL CANCER INSTITUTE   (United States)

^f HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^g UNIVERSITY OF WASHINGTON   (United States)

^h INST MUNIC D INVESTIGACIO MEDICA   (Spain)

ⁱ CENTRE FOR RESEARCH IN ENVIRONMENTAL EPIDEMIOLOGY CREAL   (Spain)

Author keywords

Accuracy; CNVpartition; Copy number variation; Genome wide association study; PennCNV; QuantiSNP; Reliability; Sensitivity; Specificity

Indexed keywords

ARTICLE; BLADDER CANCER; COPY NUMBER VARIATION; DNA DETERMINATION; GENE DUPLICATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM;

ALGORITHMS; DNA COPY NUMBER VARIATIONS; GENOME, HUMAN; HUMANS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; URINARY BLADDER NEOPLASMS;

EID: 79551581823     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21398     Document Type: Article

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