About Hatoon H. Al Ali Hatoon H. Al Ali M.S. Student (former), Bioengineering I am a Master’s student in the Bio-Ontology Research Group (BORG) under the supervision of Prof. Robert Hoehndorf. I am interested in studying genetic links to human disease. My current focus is on utilizing sequence-based prediction models to prioritize non-coding variants. In addition to customizing bioinformatics tools for special populations. Before joining KAUST, I received my Bachelor’s degree in Clinical Laboratory Science from King Saud University in 2018. Projects Related Projects 2019 CompleX: Variant Prioritization in Complex Disease Tue, Jan 1 2019 - Fri, Dec 31 2021 Applied Ontology Neuro-Symbolic AI Rare disease Semantic similarity The hardest cases in clinical genome sequencing are the ones where no single variant explains the disease. As Mendelian gene discovery slows and the diagnostic rate for whole-exome sequencing stalls below 50%, growing evidence points to oligogenic and polygenic origins: combinations of medium-rare or common alleles that, individually, look unremarkable. Population-level approaches lack the power to find them, and traditional single-gene Mendelian reasoning ignores them. The CompleX project (2019–2021, with the Universities of Cambridge and Birmingham) set out to break this impasse by extending
CompleX: Variant Prioritization in Complex Disease Tue, Jan 1 2019 - Fri, Dec 31 2021 Applied Ontology Neuro-Symbolic AI Rare disease Semantic similarity The hardest cases in clinical genome sequencing are the ones where no single variant explains the disease. As Mendelian gene discovery slows and the diagnostic rate for whole-exome sequencing stalls below 50%, growing evidence points to oligogenic and polygenic origins: combinations of medium-rare or common alleles that, individually, look unremarkable. Population-level approaches lack the power to find them, and traditional single-gene Mendelian reasoning ignores them. The CompleX project (2019–2021, with the Universities of Cambridge and Birmingham) set out to break this impasse by extending
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