Article

PERADIGM: Phenotype Embedding Similarity-based Rare Disease Gene Mapping

2025-04-07

Abstract excerpt

Identifying genes associated with rare diseases remains challenging due to the scarcity of patients and the limited statistical power of traditional association methods. Here, we introduce PERADIGM (Phenotype Embedding Similarity-based Rare Disease Gene Mapping), a novel framework that leverages natural language processing techniques to integrate comprehensive phenotype information from electronic health records f...

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Literature Corpus work: b3a132a0-f0c3-5e97-b0f3-b8a77338227e
DOI: 10.1101/2025.04.01.646670

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