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DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning.
Althagafi, Azza; Alsubaie, Lamia; Kathiresan, Nagarajan; Mineta, Katsuhiko; Aloraini, Taghrid; Al Mutairi, Fuad; Alfadhel, Majid; Gojobori, Takashi; Alfares, Ahmad; Hoehndorf, Robert.
Affiliation
  • Althagafi A; Computational Bioscience Research Center (CBRC), Computer, Electrical and Mathematical Sciences & Engineering Division (CEMSE), King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.
  • Alsubaie L; Computer Science Department, College of Computers and Information Technology, Taif University, Taif, Saudi Arabia.
  • Kathiresan N; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City (KAMC), Riyadh, Saudi Arabia.
  • Mineta K; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
  • Aloraini T; Supercomputing Core Lab, KAUST, Thuwal, Saudi Arabia.
  • Al Mutairi F; Computational Bioscience Research Center (CBRC), Computer, Electrical and Mathematical Sciences & Engineering Division (CEMSE), King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.
  • Alfadhel M; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City (KAMC), Riyadh, Saudi Arabia.
  • Gojobori T; King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
  • Alfares A; Genetics & Precision Medicine Department, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
  • Hoehndorf R; King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Centre, Ministry of National Guard-Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Bioinformatics ; 38(6): 1677-1684, 2022 03 04.
Article in En | MEDLINE | ID: mdl-34951628
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Deep Learning Type of study: Prognostic_studies Limits: Humans Language: En Journal: Bioinformatics Journal subject: INFORMATICA MEDICA Year: 2022 Type: Article Affiliation country: Saudi Arabia
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Deep Learning Type of study: Prognostic_studies Limits: Humans Language: En Journal: Bioinformatics Journal subject: INFORMATICA MEDICA Year: 2022 Type: Article Affiliation country: Saudi Arabia