1.Visualizing the phenotype diversity: a case study of Alexander disease
Eisuke DOHI ; Ali Haider BANGASH
Genomics & Informatics 2021;19(3):e28-
Since only a small number of patients have a rare disease, it is difficult to identify all of the features of these diseases. This is especially true for patients presenting with the rarest diseases. It can also be difficult for the patient, their families, and even clinicians to know which one of a number of disease phenotypes the patient is exhibiting. This, again, is especially true for patients uncommonly presenting with rare diseases. To address this issue, during Biomedical Linked Annotation Hackathon 7 (BLAH7), we tried to extract Alexander disease patient data in Portable Document Format. We then visualized the phenotypic diversity of those Alexander disease patients with uncommon presentations. This led to us identifying several issues that we need to overcome in our future work.
2.COVID-19 recommender system based on an annotated multilingual corpus
Márcia BARROS ; Pedro RUAS ; Diana SOUSA ; Ali Haider BANGASH ; Francisco M. COUTO
Genomics & Informatics 2021;19(3):e24-
Tracking the most recent advances in Coronavirus disease 2019 (COVID-19)‒related research is essential, given the disease's novelty and its impact on society. However, with the publication pace speeding up, researchers and clinicians require automatic approaches to keep up with the incoming information regarding this disease. A solution to this problem requires the development of text mining pipelines; the efficiency of which strongly depends on the availability of curated corpora. However, there is a lack of COVID-19‒related corpora, even more, if considering other languages besides English. This project's main contribution was the annotation of a multilingual parallel corpus and the generation of a recommendation dataset (EN-PT and EN-ES) regarding relevant entities, their relations, and recommendation, providing this resource to the community to improve the text mining research on COVID-19‒related literature. This work was developed during the 7th Biomedical Linked Annotation Hackathon (BLAH7).