Article

Early Detection of Rare Disease Using Hierarchical Set-to-Sequence Modeling of Structured Electronic Health Records

2026-05-06

Abstract excerpt

Rare diseases are characterized by heterogeneous, weak, and sparse phenotypic signals that emerge gradually across longitudinal clinical visits, making early detection a persistent challenge. In this study, we propose a hierarchical set-to-sequence (HSS) framework for prospective rare disease detection using structured EHR data. HSS decomposes the problem into two levels: (1) intra-visit encoding via Multi-Query A...

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Literature Corpus work: 702b3d2f-d59f-5831-b3e6-86f206ddd255
DOI: 10.64898/2026.05.04.26352393

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