RESUMO
BACKGROUND: Machine learning (ML) is now widely deployed in our everyday lives. Building robust ML models requires a massive amount of data for training. Traditional ML algorithms require training data centralization, which raises privacy and data governance issues. Federated learning (FL) is an approach to overcome this issue. We focused on applying FL on vertically partitioned data, in which an individual's record is scattered among different sites. OBJECTIVE: The aim of this study was to perform FL on vertically partitioned data to achieve performance comparable to that of centralized models without exposing the raw data. METHODS: We used three different datasets (Adult income, Schwannoma, and eICU datasets) and vertically divided each dataset into different pieces. Following the vertical division of data, overcomplete autoencoder-based model training was performed for each site. Following training, each site's data were transformed into latent data, which were aggregated for training. A tabular neural network model with categorical embedding was used for training. A centrally based model was used as a baseline model, which was compared to that of FL in terms of accuracy and area under the receiver operating characteristic curve (AUROC). RESULTS: The autoencoder-based network successfully transformed the original data into latent representations with no domain knowledge applied. These altered data were different from the original data in terms of the feature space and data distributions, indicating appropriate data security. The loss of performance was minimal when using an overcomplete autoencoder; accuracy loss was 1.2%, 8.89%, and 1.23%, and AUROC loss was 1.1%, 0%, and 1.12% in the Adult income, Schwannoma, and eICU dataset, respectively. CONCLUSIONS: We proposed an autoencoder-based ML model for vertically incomplete data. Since our model is based on unsupervised learning, no domain-specific knowledge is required in individual sites. Under the circumstances where direct data sharing is not available, our approach may be a practical solution enabling both data protection and building a robust model.
RESUMO
Meta-analysis has become a popular tool for genetic association studies to combine different genetic studies. A key challenge in meta-analysis is heterogeneity, or the differences in effect sizes between studies. Heterogeneity complicates the interpretation of meta-analyses. In this paper, we describe ForestPMPlot, a flexible visualization tool for analyzing studies included in a meta-analysis. The main feature of the tool is visualizing the differences in the effect sizes of the studies to understand why the studies exhibit heterogeneity for a particular phenotype and locus pair under different conditions. We show the application of this tool to interpret a meta-analysis of 17 mouse studies, and to interpret a multi-tissue eQTL study.