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Het2Gene: a phenotype-driven model for gene prioritization by heterogeneous graph embedding.

Computers in biology and medicine - 1 Apr 2026

Zhan Buchao, Yang Xin, He Dongmei, Zhang Zilong, Cui Feifei, Zhang Qingchen, Yan Shankai

Abstract excerpt

Mendelian genetic diseases pose a significant global health burden. Early identification of causative genes is crucial for halting disease progression and developing targeted therapies. However, diagnosing causal genes from next-generation sequencing (NGS) data remains a time-consuming challenge in clinical practice. While numerous phenotype-driven computational models, primarily graph-based approaches, have been...

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PMID: 41724063
DOI: 10.1016/j.compbiomed.2026.111543

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