The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients Ş Kafkas, M Abdelhakim, A Althagafi, S Toonsi, M Alghamdi, PN Schofield, ... medRxiv, 2023.11. 16.23298615, 2023 | 2 | 2023 |
Causal relationships between diseases mined from the literature improve the use of polygenic risk scores S Toonsi, II Gauran, H Ombao, PN Schofield, R Hoehndorf Bioinformatics 40 (11), btae639, 2024 | | 2024 |
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs) MC Aspromonte, A Del Conte, S Zhu, W Tan, Y Shen, Y Zhang, Q Li, ... Research Square, 2023 | | 2023 |
Natural Language Processing Tutorial for Biomedical Text Mining. S Kafkas, S Toonsi, S Alsaedi ICBO, 211, 2023 | | 2023 |
Exploring the Use of Ontology Components for Distantly-Supervised Disease and Phenotype Named Entity Recognition S Toonsi, S Kafkas, R Hoehndorf CEUR-WS, 2023 | | 2023 |