Clinical phenotype-based gene prioritization: An initial study using semantic similarity and the human phenotype ontology

BMC Bioinformatics

Volumn 15, Issue 1, 2014, Pages

  Masino, Aaron J ^a   Dechene, Elizabeth T ^a   Dulik, Matthew C ^a   Wilkens, Alisha ^a   Spinner, Nancy B ^a,b,c   Krantz, Ian D ^a,c   Pennington, Jeffrey W ^a   Robinson, Peter N ^d,e   White, Peter S ^f,g  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^f CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^g UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

Clinical; Exome; Genome; Informatics; Phenotype

Indexed keywords

AUDITION; COMPUTER SIMULATION; GENES; MEDIAN FILTERS;

CLINICAL; CLINICAL ASSESSMENTS; EXOME; GENE PRIORITIZATION; HEARING IMPAIRMENTS; INFORMATICS; PHENOTYPE; SEMANTIC SIMILARITY;

DIAGNOSIS;

ALGORITHM; ARTICLE; BIOLOGICAL ONTOLOGY; BIOLOGY; COMPUTER PROGRAM; DATA MINING; DISEASES; EXOME; GENETIC DATABASE; GENETICS; HUMAN; METHODOLOGY; PHENOTYPE; SEMANTICS;

ALGORITHMS; BIOLOGICAL ONTOLOGIES; COMPUTATIONAL BIOLOGY; DATA MINING; DATABASES, GENETIC; DISEASE; EXOME; HUMANS; PHENOTYPE; SEMANTICS; SOFTWARE;

EID: 84904445954     PISSN: None     EISSN: 14712105     Source Type: Journal    
DOI: 10.1186/1471-2105-15-248     Document Type: Article

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