ArticleGenomics & informatics2021
Visualizing the phenotype diversity: a case study of Alexander disease.
Article in Genomics & informatics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
3 citing papers in PubMed.
- Editorial for the special collection: frontiers in rare disease genetics.Genomics & informatics · 2025Article
- Examining HPO by organ and system to facilitate practical use by clinicians.Genomics & informatics · 2024Article
- Editor's introduction to the special section on the 7th Biomedical Linked Annotation Hackathon (BLAH7).Genomics & informatics · 2021Article
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
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 uncommonly presenting with rare 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. 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.
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Registered trials
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