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bio-ontology-research-group/DeepSVP: Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity

dc.contributor.authorAlthagafi, Azza Th.
dc.contributor.authorAlsubaie, Lamia
dc.contributor.authorKathiresan, Nagarajan
dc.contributor.authorMineta, Katsuhiko
dc.contributor.authorAloraini, Taghrid
dc.contributor.authorAlmutairi, Fuad
dc.contributor.authorAlfadhel, Majid
dc.contributor.authorGojobori, Takashi
dc.contributor.authorAlfares, Ahmed
dc.contributor.authorHoehndorf, Robert
dc.date.accessioned2021-03-08T08:28:24Z
dc.date.available2021-03-08T08:28:24Z
dc.date.issued2020-06-08
dc.identifier.urihttp://hdl.handle.net/10754/667966
dc.description.abstractPrioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity
dc.publisherGithub
dc.relation.urlhttps://github.com/bio-ontology-research-group/DeepSVP
dc.titlebio-ontology-research-group/DeepSVP: Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity
dc.typeSoftware
dc.contributor.departmentBio-Ontology Research Group (BORG)
dc.contributor.departmentBiological and Environmental Science and Engineering (BESE) Division
dc.contributor.departmentBioscience Program
dc.contributor.departmentComputational Bioscience Research Center (CBRC)
dc.contributor.departmentComputational Bioscience Research Center, Computer, Electrical and Mathematical Sciences & Engineering Division, King Abdullah University of Science and Technology, 4700 King Abdullah University of Science and Technology, Thuwal 23955-6900, Saudi Arabia
dc.contributor.departmentComputational Scientists
dc.contributor.departmentComputer Science Program
dc.contributor.departmentComputer, Electrical and Mathematical Science and Engineering (CEMSE) Division
dc.contributor.institutionDepartment of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
dc.contributor.institutionDivision of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia
dc.contributor.institutionKing Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia
dc.contributor.institutionKing Abdullah International Medical Research Center, Riyadh, Saudi Arabia
kaust.personAlthagafi, Azza Th.
kaust.personKathiresan, Nagarajan
kaust.personMineta, Katsuhiko
kaust.personGojobori, Takashi
kaust.personHoehndorf, Robert
dc.relation.issupplementtoDOI:10.1101/2021.01.28.428557
dc.relation.issupplementtoDOI:10.1093/bioinformatics/btab859
display.relations<b>Is Supplement To:</b><br/> <ul><li><i>[Preprint]</i> <br/> Althagafi, A., Alsubaie, L., Kathiresan, N., Mineta, K., Aloraini, T., Almutairi, F., … Hoehndorf, R. (2021). DeepSVP: Integration of genotype and phenotype for structural variant prioritization using deep learning. doi:10.1101/2021.01.28.428557. DOI: <a href="https://doi.org/10.1101/2021.01.28.428557" >10.1101/2021.01.28.428557</a> Handle: <a href="http://hdl.handle.net/10754/667141" >10754/667141</a></a></li><li><i>[Article]</i> <br/> Althagafi, A., Alsubaie, L., Kathiresan, N., Mineta, K., Aloraini, T., Almutairi, F., … Hoehndorf, R. (2021). DeepSVP: Integration of genotype and phenotype for structural variant prioritization using deep learning. Bioinformatics. doi:10.1093/bioinformatics/btab859. DOI: <a href="https://doi.org/10.1093/bioinformatics/btab859" >10.1093/bioinformatics/btab859</a> Handle: <a href="http://hdl.handle.net/10754/667141" >10754/667141</a></a></li></ul>
dc.identifier.githubbio-ontology-research-group/DeepSVP


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