DeepPVP: Phenotype-based prioritization of causative variants using deep learning

BMC Bioinformatics

Volumn 20, Issue 1, 2019, Pages

  Boudellioua, Imane ^a   Kulmanov, Maxat ^a   Schofield, Paul N ^b   Gkoutos, Georgios V ^c,d,e,f,g   Hoehndorf, Robert ^a  

^a KING ABDULLAH UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Saudi Arabia)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^d UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^e Surgical Reconstruction and Microbiological Research Centre   (United Kingdom)

^f University of Birmingham   (United Kingdom)

^g NIHR Surgical Reconstruction and Microbiology ^*  (United Kingdom)

Author keywords

Machine learning; Ontology; Phenotype; Variant prioritization

Indexed keywords

GENES; LEARNING SYSTEMS; ONTOLOGY; SEMANTICS;

GENOMIC DATA; PHENOTYPE; PRIORITIZATION; SEMANTIC SIMILARITY MEASURES; WHOLE GENOME SEQUENCES;

DEEP NEURAL NETWORKS;

ARTICLE; BIOLOGICAL ONTOLOGY; DEEP LEARNING; EXOME; HUMAN; PHENOTYPE; VELOCITY; ARTIFICIAL NEURAL NETWORK; GENE FREQUENCY; GENETIC VARIATION; GENETICS; SOFTWARE; WHOLE EXOME SEQUENCING;

DEEP LEARNING; EXOME; GENE FREQUENCY; GENETIC VARIATION; HUMANS; NEURAL NETWORKS (COMPUTER); PHENOTYPE; SOFTWARE; WHOLE EXOME SEQUENCING;

EID: 85061131814     PISSN: None     EISSN: 14712105     Source Type: Journal    
DOI: 10.1186/s12859-019-2633-8     Document Type: Article

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