Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes

Human Molecular Genetics

Volumn 24, Issue 6, 2015, Pages 1774-1790

  Cooper, Nicholas J ^a   Shtir, Corina J ^a   Smyth, Deborah J ^a   Guo, Hui ^a   Swafford, Austin D ^a   Zanda, Manuela ^b,c   Hurles, Matthew E ^b   Walker, Neil M ^a   Plagnol, Vincent ^c   Cooper, Jason D ^a   Howson, Joanna M M ^a,d   Burren, Oliver S ^a   Onengut Gumuscu, Suna ^e   Rich, Stephen S ^e   Todd, John A ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e UNIVERSITY OF VIRGINIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE DELETION; GENE FREQUENCY; GENE REPLICATION; GENOTYPE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUALITY CONTROL; RISK; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ARTIFACT; CHILD; GENETIC PREDISPOSITION; GENETICS; GENOTYPING TECHNIQUE; PRESCHOOL CHILD; PROCEDURES; SOFTWARE; STATISTICAL ANALYSIS;

ADOLESCENT; ARTIFACTS; CHILD; CHILD, PRESCHOOL; DATA INTERPRETATION, STATISTICAL; DIABETES MELLITUS, TYPE 1; DNA COPY NUMBER VARIATIONS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPING TECHNIQUES; HUMANS; QUALITY CONTROL; SENSITIVITY AND SPECIFICITY; SEQUENCE DELETION; SOFTWARE;

EID: 84936073016     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu581     Document Type: Article

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