ArticleProceedings. IEEE International Conference on Bioinformatics and Biomedicine2024
Aligning Orphanet Classification to Identify Disease Characteristics among Rare Disease Clusters.
Article in Proceedings. IEEE International Conference on Bioinformatics and Biomedicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Understanding the underlying etiologies of rare diseases may facilitate research across multiple conditions, enabling basket trail design and drug repurposing. In this study, we aligned clusters of rare diseases with Orphanet classifications to represent their shared etiologies and establish a foundation for further investigation on underly biological mechanism discovery. By utilizing the linearized Orphanet categories, we connected 35 clusters of rare diseases into 18 classifications. Significant associations were found between the categories "Rare Developmental Defects During Embryogenesis" and "Rare Inborn Errors of Metabolism" and the clusters in this study, suggesting that many rare diseases originating in the prenatal period or related to metabolism may present a substantial opportunity for success in future investigation.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.