Harmonising phenomics information for a better interoperability in the rare disease field

European Journal of Medical Genetics

Volumn 61, Issue 11, 2018, Pages 706-714

  Maiella, Sylvie ^a   Olry, Annie ^a   Hanauer, Marc ^a   Lanneau, Valérie ^a   Lourghi, Halima ^a   Donadille, Bruno ^a   Rodwell, Charlotte ^a   Köhler, Sebastian ^c   Seelow, Dominik ^c   Jupp, Simon ^e   Parkinson, Helen ^e   Groza, Tudor ^f   Brudno, Michael ^d   Robinson, Peter N ^b   Rath, Ana ^a  

^a INSERM   (France)

^b JACKSON LABORATORY   (United States)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d UNIVERSITY OF TORONTO   (Canada)

^e EUROPEAN BIOINFORMATICS INSTITUTE   (United Kingdom)

^f GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

Author keywords

Biological ontologies; Controlled vocabulary; Diagnosis; Differential; Knowledge bases

Indexed keywords

ACCURACY; AUTOMATION; CROWDSOURCING; EXOME; GENE ONTOLOGY; GENETIC VARIABILITY; HUMAN; PHENOTYPE; RARE DISEASE; REVIEW; WHOLE GENOME SEQUENCING; BIOLOGY; FACTUAL DATABASE; GENETICS; PATHOLOGY; SOFTWARE; TRENDS;

COMPUTATIONAL BIOLOGY; DATABASES, FACTUAL; EXOME; HUMANS; PHENOTYPE; RARE DISEASES; SOFTWARE;

EID: 85042374300     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2018.01.013     Document Type: Review

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