Article

Unsupervised Variant Clustering Identifies Genetic Subtypes of Disease

2025-07-04

Abstract excerpt

Current approaches to identify disease subtypes rely on prior knowledge or external phenotypic references that limit their generalisability across traits. This study presents an unsupervised, phenotype- free framework that analyses the genetic co-occurrence of variants across individuals to identify variant clusters underpinning disease heterogeneity. The approach is developed and validated using simulated combina...

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Literature Corpus work: f838d563-e3f1-5416-982b-265b59efd6d7
DOI: 10.1101/2025.07.01.662666

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