arXiv subjects

Niklas Probul

Publications and source records attributed to Niklas Probul.

4 recordsLinked to original sources

arXiv2024

Batch effects can impair federated learning in multi-center omics studies

Federated learning (FL) enables collaborative analysis of biomedical data without exchanging sensitive patient-level information, but its performance in multi-center studies may be compromised by batch effects which can obscure biological signals. Here, we systematically assess the impact of uncorrected batch effects on FL outcomes using four multi-center omics datasets, including transcriptomic, proteomic, and metabolomic data, and two representative algorithms: federated k-means clustering and federated random forest classification. Our results demonstrate that uncorrected batch effects undermine unsupervised FL and can substantially degrade supervised FL performance, indicating that privacy-aware batch-effect correction is essential for reliable FL. To enable privacy-preserving BEC in distributed bulk omics data, we introduce fedRBE ( https://featurecloud.ai/app/fedrbe ), a federated implementation of limma's removeBatchEffect() method enhanced by secure multi-party computation, suitable for datasets with missing values and non-identical feature sets across clients, including proteomics and metabolomics data.

q-bio.QM↗

arXiv2024

Privacy-preserving federated prediction of pain intensity change based on multi-center survey data

Background: Patient-reported survey data are used to train prognostic models aimed at improving healthcare. However, such data are typically available multi-centric and, for privacy reasons, cannot easily be centralized in one data repository. Models trained locally are less accurate, robust, and generalizable. We present and apply privacy-preserving federated machine learning techniques for prognostic model building, where local survey data never leaves the legally safe harbors of the medical centers. Methods: We used centralized, local, and federated learning techniques on two healthcare datasets (GLA:D data from the five health regions of Denmark and international SHARE data of 27 countries) to predict two different health outcomes. We compared linear regression, random forest regression, and random forest classification models trained on local data with those trained on the entire data in a centralized and in a federated fashion. Results: In GLA:D data, federated linear regression (R2 0.34, RMSE 18.2) and federated random forest regression (R2 0.34, RMSE 18.3) models outperform their local counterparts (i.e., R2 0.32, RMSE 18.6, R2 0.30, RMSE 18.8) with statistical significance. We also found that centralized models (R2 0.34, RMSE 18.2, R2 0.32, RMSE 18.5, respectively) did not perform significantly better than the federated models. In SHARE, the federated model (AC 0.78, AUROC: 0.71) and centralized model (AC 0.84, AUROC: 0.66) perform significantly better than the local models (AC: 0.74, AUROC: 0.69). Conclusion: Federated learning enables the training of prognostic models from multi-center surveys without compromising privacy and with only minimal or no compromise regarding model performance.

cs.LG↗

arXiv2024

UnPaSt: unsupervised patient stratification by biclustering of omics data

Unsupervised patient stratification is essential for disease subtype discovery, yet, despite growing evidence of molecular heterogeneity of non-oncological diseases, popular methods are benchmarked primarily using cancers with mutually exclusive molecular subtypes well-differentiated by numerous biomarkers. Evaluating 22 unsupervised methods, including clustering and biclustering, using simulated and real transcriptomics data revealed their inefficiency in scenarios with non-mutually exclusive subtypes or subtypes discriminated only by few biomarkers. To address these limitations and advance precision medicine, we developed UnPaSt, a novel biclustering algorithm for unsupervised patient stratification based on differentially expressed biclusters. UnPaSt outperformed widely used patient stratification approaches in the de novo identification of known subtypes of breast cancer and asthma. In addition, it detected many biologically insightful patterns across bulk transcriptomics, proteomics, single-cell, spatial transcriptomics, and multi-omics datasets, enabling a more nuanced and interpretable view of high-throughput data heterogeneity than traditionally used methods.

cs.LG↗

arXiv2022

Democratising Knowledge Representation with BioCypher

Standardising the representation of biomedical knowledge among all researchers is an insurmountable task, hindering the effectiveness of many computational methods. To facilitate harmonisation and interoperability despite this fundamental challenge, we propose to standardise the framework of knowledge graph creation instead. We implement this standardisation in BioCypher, a FAIR (findable, accessible, interoperable, reusable) framework to transparently build biomedical knowledge graphs while preserving provenances of the source data. Mapping the knowledge onto biomedical ontologies helps to balance the needs for harmonisation, human and machine readability, and ease of use and accessibility to non-specialist researchers. We demonstrate the usefulness of this framework on a variety of use cases, from maintenance of task-specific knowledge stores, to interoperability between biomedical domains, to on-demand building of task-specific knowledge graphs for federated learning. BioCypher (https://biocypher.org) frees up valuable developer time; we encourage further development and usage by the community.

q-bio.MN↗