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A novel method for subgroup discovery in precision medicine based on topological data analysis.
Ciara F Loughrey1, Sarah Maguire2, Paweł Dłotko3
1School of Electronics, Electrical Engineering and Computer Science, Queen's University Belfast, Belfast, UK.
BMC Medical Informatics and Decision Making
|March 19, 2025
Summary
This study introduces a new hotspot detection algorithm for the Mapper algorithm, improving subgroup discovery in patient data. The method identifies optimal Mapper parameters, enabling better analysis of complex disease patterns and patient stratification.
Area of Science:
- Computational biology
- Data mining
- Topological data analysis
Background:
- The Mapper algorithm visualizes patient data as similarity graphs for disease understanding.
- Current limitations include complex parameter selection and manual graph analysis.
- This hinders routine application in real-world settings.
Purpose of the Study:
- To develop a novel algorithm for subgroup discovery within Mapper graphs.
- To address the challenge of optimal parameter selection for the Mapper algorithm.
- To identify homogenous and distinct patient subgroups (hotspots).
Main Methods:
- Proposed a hotspot detection algorithm for subgroup discovery in Mapper graphs.
- Integrated hotspot existence as a criterion for parameter space searching.
- Applied the algorithm to artificial and real-world breast cancer datasets.
Main Results:
- Successfully identified homogenous communities in the Two Circles dataset.
- Discovered a hotspot of ER+ breast cancer patients with poor prognosis and distinct gene expression.
- Confirmed findings in an independent breast cancer dataset.
Conclusions:
- The proposed method effectively facilitates subgroup discovery with pathology data.
- Enables identification of optimal Mapper algorithm parameters.
- Bridges the gap between Mapper's potential and translational research applications.

