Genomics Inform.  2021 Sep;19(3):e28. 10.5808/gi.21016.

Visualizing the phenotype diversity: a case study of Alexander disease

• Dohi E
• Bangash AH

• KMID: 2521529
• DOI: http://doi.org/10.5808/gi.21016

Abstract

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.

Keyword

annotation; biomedical text mining; case reports; phenotype; rare diseases; symptoms