Algorithm scours datasets to diagnose medical mysteries

May 03 2017

​​​​A new publication by Professor Robert Hoehndorf and Ph.D. student Imane Boudellioua from the Bio-Ontology Research Lab has been released. Titled "Semantic prioritization of novel causative genomic variants​", this study ​​showcases PhenomeNet Variant Predictor (PVP), a new tool they developed which has the potential to help patients find genetic causes for their undiagnosed diseases​. 


Read more on ​​the KAUST Discovery website.

Boudellioua, I., Mahamad Razali, R.B., Kulmanov, M., Hashish, Y., Bajic, V.B... & Hoehndorf, R. Semantic prioritization of novel causative genomic variants. PLoS Computational Biology 13, e1005500 (2017).​​