Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

DMM Disease Models and Mechanisms

Volumn 6, Issue 2, 2013, Pages 358-372

  Doelken, Sandra C ^a,b   Köhler, Sebastian ^a,b   Mungall, Christopher J ^c   Gkoutos, Georgios V ^d   Ruef, Barbara J ^e   Smith, Cynthia ^f   Smedley, Damian ^g   Bauer, Sebastian ^a   Klopocki, Eva ^a,b   Schofield, Paul N ^f,h   Westerfield, Monte ^e   Robinson, Peter N ^a,b   Lewis, Suzanna E ^c  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^d ABERYSTWYTH UNIVERSITY   (United Kingdom)

^e UNIVERSITY OF OREGON   (United States)

^f JACKSON LABORATORY   (United States)

^g EUROPEAN BIOINFORMATICS INSTITUTE   (United Kingdom)

^h UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; ANIMAL EXPERIMENT; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; COPY NUMBER VARIATION; EXPERIMENTAL MODEL; GENE; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HUMAN; MATHEMATICAL ANALYSIS; MOUSE; NONHUMAN; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN INTERACTION; ZEBRA FISH;

ANIMALS; CLUSTER ANALYSIS; COMPUTATIONAL BIOLOGY; DISEASE; DNA COPY NUMBER VARIATIONS; GENETIC ASSOCIATION STUDIES; GENOME; HUMANS; MICE; MUTATION; PHENOTYPE; SPECIES SPECIFICITY; ZEBRAFISH;

EID: 84875136038     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.010322     Document Type: Article

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