PhenoVar: A phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes

BMC Medical Genomics

Volumn 7, Issue 1, 2014, Pages

  Trakadis, Yannis J ^a,c   Buote, Caroline ^b   Therriault, Jean François ^b   Jacques, Pierre Étienne ^b   Larochelle, Hugo ^b   Lévesque, Sébastien ^b,d  

^a MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b UNIVERSITÉ DE SHERBROOKE   (Canada)

^c MONTREAL CHILDREN S HOSPITAL   (Canada)

^d CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

Author keywords

Clinic; Encrypted; Exome; Genome; I MPOS; I MPOSE; PhenoVar; Sequencing

Indexed keywords

ARTICLE; BIOINFORMATICS; COMPUTER PROGRAM; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; EXOME; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; GENOMICS; GENOTYPE; HUMAN; INCIDENTAL FINDING; MOLECULAR DIAGNOSIS; PHENOTYPE; POLYMALFORMATIVE SYNDROME; PREDICTION; PRIORITY JOURNAL; REFERENCE VALUE;

CONGENITAL ABNORMALITIES; GENOME, HUMAN; GENOMICS; HUMANS; PHENOTYPE; REPRODUCIBILITY OF RESULTS; SOFTWARE; SYNDROME;

EID: 84901495108     PISSN: None     EISSN: 17558794     Source Type: Journal    
DOI: 10.1186/1755-8794-7-22     Document Type: Article

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