Accurate distinction of pathogenic from benign CNVs in mental retardation

PLoS Computational Biology

Volumn 6, Issue 4, 2010, Pages

  Hehir Kwa, Jayne Y ^a   Wieskamp, Nienke ^a   Webber, Caleb ^b   Pfundt, Rolph ^a   Brunner, Han G ^a   Gilissen, Christian ^a   de Vries, Bert B A ^a   Ponting, Chris P ^b   Veltman, Joris A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL RESEARCH; DISEASES; GENES; MAMMALS;

BAYESIAN TREES; COPY NUMBER; FUNCTIONAL GENOMICS; GENOMICS; MENTAL RETARDATION; NEUROLOGICAL DISORDERS; ORTHOLOGUES; PATHOGENICS; STRUCTURAL GENOMICS; WHOLE GENOME SEQUENCING;

GENOME;

ACCURACY; ARTICLE; CLASSIFIER; COPY NUMBER VARIATION; DNA MICROARRAY; FUNCTIONAL GENOMICS; GENE SEQUENCE; GENETIC VARIABILITY; MATHEMATICAL COMPUTING; MENTAL DEFICIENCY; PHENOTYPE; STRUCTURAL GENOMICS; ANIMAL; BAYES THEOREM; BIOLOGICAL MODEL; COHORT ANALYSIS; GENETICS; HUMAN; MOUSE; MOUSE MUTANT; PREDICTION AND FORECASTING; REPRODUCIBILITY;

ANIMALS; BAYES THEOREM; COHORT STUDIES; DNA COPY NUMBER VARIATIONS; HUMANS; MENTAL RETARDATION; MICE; MICE, KNOCKOUT; MODELS, GENETIC; PHENOTYPE; PREDICTIVE VALUE OF TESTS; REPRODUCIBILITY OF RESULTS;

EID: 77954575178     PISSN: 1553734X     EISSN: 15537358     Source Type: Journal    
DOI: 10.1371/journal.pcbi.1000752     Document Type: Article

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