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Updated: Jan 8, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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范例:嵌入相似性基础的罕见疾病基因映射的表型

Wangjie Zheng1, Yuhan Xie1, Jianlei Gu1

  • 1Department of Biostatistics, Yale University, New Haven, Connecticut, United States of America.

PLoS genetics
|December 18, 2025
PubMed
概括

鉴定罕见疾病基因是困难的. PERADIGM (Phenotype Embedding 基于相似性的罕见疾病基因映射) 使用NLP和患者相似性来寻找罕见疾病的新候选基因,如ADPKD和马方综合征.

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