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Article

PGVDA: a pathway-aggregated genetic dosage framework for interpretable disease classification using machine learning.

Briefings in bioinformatics - 7 Jan 2026

Shon Sanghyun, Ko Younhee, Yoon Hojin, Kwak Kyeongmin, Lee Hwamin

Abstract excerpt

Although neuromuscular junction disorders (NMDs) and inflammatory polyneuropathies (IPNs) are biologically distinct, direct genetic comparisons between them remain limited, suggesting that additional underlying biological differences may yet be uncovered. Few studies have explored whether differences in variant patterns within shared biological pathways can be leveraged to distinguish NMDs and IPNs using machine...

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Identifiers

PMID: 41632594
DOI: 10.1093/bib/bbag025
PMCID: PMC12866923

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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