Article

Using Networks and Prior Knowledge to Uncover novel Rare Disease Phenotypes

2025-04-03

Abstract excerpt

Rare diseases are characterized by low prevalence and high phenotypic diversity. Accurately identifying phenotypes associated with rare diseases is crucial for facilitating their diagnosis and management. However, this task presents significant challenges: rare disease datasets are typically small, making statistical assessments difficult, and they often report phenotypes using various terminologies, hindering the...

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Literature Corpus work: 1d208d0b-cb77-5d94-80e0-ee38d0665cbe
DOI: 10.1101/2025.04.02.25325098

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