Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

Orphanet Journal of Rare Diseases

Volumn 13, Issue 1, 2018, Pages

  Garcelon, Nicolas ^a,b   Neuraz, Antoine ^b,c   Salomon, Rémi ^a,c   Bahi Buisson, Nadia ^a,c   Amiel, Jeanne ^a,c   Picard, Capucine ^a,b,c   Mahlaoui, Nizar ^a,b,c   Benoit, Vincent ^a   Burgun, Anita ^b,c,d   Rance, Bastien ^b,d  

^a IMAGINE INSTITUTE   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

Data mining; Data warehouse; Natural language processing; Next generation phenotyping; Rare diseases

Indexed keywords

ARTICLE; BARDET BIEDL SYNDROME; DATA WAREHOUSE; DISEASE ASSOCIATION; DOCK8 GENE; ELECTRONIC HEALTH RECORD; FEMALE; GENE; GENETIC DISORDER; HUMAN; LOWE SYNDROME; MAJOR CLINICAL STUDY; MALE; MEASUREMENT ACCURACY; MEDICAL SPECIALIST; NARRATIVE MEDICINE; NEXT GENERATION SEQUENCING; PHENOTYPE; RARE DISEASE; RETT SYNDROME; SILVER RUSSELL SYNDROME; ALGORITHM; NATURAL LANGUAGE PROCESSING;

ALGORITHMS; DATA WAREHOUSING; HUMANS; NATURAL LANGUAGE PROCESSING; PHENOTYPE; RARE DISEASES;

EID: 85047944529     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-018-0830-6     Document Type: Article

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