- Position
- MSc (alumnus)
- Institution
- KAUST
- Program
- Computer Science
- Start
- 2017
- End
- 2018
Connections
advisor borg:advisor
on project borg:onProject
Referenced by
team borg:hasMember
authors schema:author
- The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients
- Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes
- What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
- DeepSVP: integration of genotype and phenotype for structural variant prioritization using deep learning
- Prioritizing genomic variants through neuro-symbolic, knowledge-enhanced learning
- CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
- Predicting candidate genes from phenotypes, functions and anatomical site of expression
- VarLand: A pipeline to map the structural landscape of missense variants at the proteome scale
- A reference quality, fully annotated diploid genome from a Saudi individual
- Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
- EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
Open in the interactive graph →
JSON-LD (this resource)
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"borg": "https://borg.kaust.edu.sa/kg/ns/",
"borg-id": "https://borg.kaust.edu.sa/kg/",
"owl": "http://www.w3.org/2002/07/owl#"
},
"@id": "https://leechuck.de/kg-browser/id/person/azza-althagafi",
"@type": "foaf:Person",
"owl:sameAs": {
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},
"foaf:name": "Azza Althagafi",
"foaf:givenName": "Azza",
"foaf:familyName": "Althagafi",
"borg:position": "MSc (alumnus)",
"borg:thesisTitle": "Simulation and visualization of human genomes",
"borg:thesisFile": "azza-ms-thesis/Thesis.pdf",
"borg:program": "Computer Science",
"borg:institutionAtBORG": "KAUST",
"borg:advisor": "borg-id:person/robert-hoehndorf",
"borg:startYear": 2017,
"borg:endYear": 2018,
"borg:onProject": [
{
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"borg:startYear": 2017,
"borg:endYear": 2018
}
],
"borg:topic": [
{
"@id": "https://leechuck.de/kg-browser/id/topic/rare-disease-diagnostic-support",
"borg:weight": 12
},
{
"@id": "https://leechuck.de/kg-browser/id/topic/genomics",
"borg:weight": 6
},
{
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"borg:weight": 4
},
{
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},
{
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},
{
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"borg:weight": 2
},
{
"@id": "https://leechuck.de/kg-browser/id/topic/phenotype-informatics",
"borg:weight": 1
}
]
}
Machine-readable copy: data.jsonld. Full dataset: kg.jsonld.