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1. Multitask knowledge-primed neural network for predicting missing metadata and host phenotype based on human microbiome

   https://doi.org/10.1093/bioadv/vbae203  

   Monshizadeh, Mahsa; Hong, Yuhui; Ye, Yuzhen (December 2024, Bioinformatics Advances)

   Lengauer, Thomas (Ed.)

   Abstract MotivationMicrobial signatures in the human microbiome are closely associated with various human diseases, driving the development of machine learning models for microbiome-based disease prediction. Despite progress, challenges remain in enhancing prediction accuracy, generalizability, and interpretability. Confounding factors, such as host’s gender, age, and body mass index, significantly influence the human microbiome, complicating microbiome-based predictions. ResultsTo address these challenges, we developed MicroKPNN-MT, a unified model for predicting human phenotype based on microbiome data, as well as additional metadata like age and gender. This model builds on our earlier MicroKPNN framework, which incorporates prior knowledge of microbial species into neural networks to enhance prediction accuracy and interpretability. In MicroKPNN-MT, metadata, when available, serves as additional input features for prediction. Otherwise, the model predicts metadata from microbiome data using additional decoders. We applied MicroKPNN-MT to microbiome data collected in mBodyMap, covering healthy individuals and 25 different diseases, and demonstrated its potential as a predictive tool for multiple diseases, which at the same time provided predictions for the missing metadata. Our results showed that incorporating real or predicted metadata helped improve the accuracy of disease predictions, and more importantly, helped improve the generalizability of the predictive models. Availability and implementationhttps://github.com/mgtools/MicroKPNN-MT. 

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2. Annotating publicly-available samples and studies using interpretable modeling of unstructured metadata

   https://doi.org/10.1093/bib/bbae652  

   Yuan, Hao; Hicks, Parker; Ahmadian, Mansooreh; Johnson, Kayla_A; Valtadoros, Lydia; Krishnan, Arjun (December 2024, Briefings in Bioinformatics)

   Abstract Reusing massive collections of publicly available biomedical data can significantly impact knowledge discovery. However, these public samples and studies are typically described using unstructured plain text, hindering the findability and further reuse of the data. To combat this problem, we propose txt2onto 2.0, a general-purpose method based on natural language processing and machine learning for annotating biomedical unstructured metadata to controlled vocabularies of diseases and tissues. Compared to the previous version (txt2onto 1.0), which uses numerical embeddings as features, this new version uses words as features, resulting in improved interpretability and performance, especially when few positive training instances are available. Txt2onto 2.0 uses embeddings from a large language model during prediction to deal with unseen-yet-relevant words related to each disease and tissue term being predicted from the input text, thereby explaining the basis of every annotation. We demonstrate the generalizability of txt2onto 2.0 by accurately predicting disease annotations for studies from independent datasets, using proteomics and clinical trials as examples. Overall, our approach can annotate biomedical text regardless of experimental types or sources. Code, data, and trained models are available at https://github.com/krishnanlab/txt2onto2.0. 

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3. Collaborative Graph Learning with Auxiliary Text for Temporal Event Prediction in Healthcare

   https://doi.org/10.24963/ijcai.2021/486  

   Lu, Chang; Reddy, Chandan K; Chakraborty, Prithwish; Kleinberg, Samantha; Ning, Yue (August 2021, Proceedings of the Thirtieth International Joint Conference on Artificial Intelligence)

   Accurate and explainable health event predictions are becoming crucial for healthcare providers to develop care plans for patients. The availability of electronic health records (EHR) has enabled machine learning advances in providing these predictions. However, many deep-learning-based methods are not satisfactory in solving several key challenges: 1) effectively utilizing disease domain knowledge; 2) collaboratively learning representations of patients and diseases; and 3) incorporating unstructured features. To address these issues, we propose a collaborative graph learning model to explore patient-disease interactions and medical domain knowledge. Our solution is able to capture structural features of both patients and diseases. The proposed model also utilizes unstructured text data by employing an attention manipulating strategy and then integrates attentive text features into a sequential learning process. We conduct extensive experiments on two important healthcare problems to show the competitive prediction performance of the proposed method compared with various state-of-the-art models. We also confirm the effectiveness of learned representations and model interpretability by a set of ablation and case studies. 

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4. Self-Supervised Graph Learning With Hyperbolic Embedding for Temporal Health Event Prediction

   https://doi.org/10.1109/TCYB.2021.3109881  

   Lu, Chang; Reddy, Chandan K.; Ning, Yue (September 2021, IEEE Transactions on Cybernetics)

   Electronic health records (EHRs) have been heavily used in modern healthcare systems for recording patients' admission information to health facilities. Many data-driven approaches employ temporal features in EHR for predicting specific diseases, readmission times, and diagnoses of patients. However, most existing predictive models cannot fully utilize EHR data, due to an inherent lack of labels in supervised training for some temporal events. Moreover, it is hard for the existing methods to simultaneously provide generic and personalized interpretability. To address these challenges, we propose Sherbet, a self-supervised graph learning framework with hyperbolic embeddings for temporal health event prediction. We first propose a hyperbolic embedding method with information flow to pretrain medical code representations in a hierarchical structure. We incorporate these pretrained representations into a graph neural network (GNN) to detect disease complications and design a multilevel attention method to compute the contributions of particular diseases and admissions, thus enhancing personalized interpretability. We present a new hierarchy-enhanced historical prediction proxy task in our self-supervised learning framework to fully utilize EHR data and exploit medical domain knowledge. We conduct a comprehensive set of experiments on widely used publicly available EHR datasets to verify the effectiveness of our model. Our results demonstrate the proposed model's strengths in both predictive tasks and interpretable abilities. 

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5. Context-Aware Health Event Prediction via Transition Functions on Dynamic Disease Graphs

   Lu, Chang; Han, Tian; Ning, Yue (June 2022, Proceedings of the AAAI Conference on Artificial Intelligence)

   With the wide application of electronic health records (EHR) in healthcare facilities, health event prediction with deep learning has gained more and more attention. A common feature of EHR data used for deep-learning-based predictions is historical diagnoses. Existing work mainly regards a diagnosis as an independent disease and does not consider clinical relations among diseases in a visit. Many machine learning approaches assume disease representations are static in different visits of a patient. However, in real practice, multiple diseases that are frequently diagnosed at the same time reflect hidden patterns that are conducive to prognosis. Moreover, the development of a disease is not static since some diseases can emerge or disappear and show various symptoms in different visits of a patient. To effectively utilize this combinational disease information and explore the dynamics of diseases, we propose a novel context-aware learning framework using transition functions on dynamic disease graphs. Specifically, we construct a global disease co-occurrence graph with multiple node properties for disease combinations. We design dynamic subgraphs for each patient's visit to leverage global and local contexts. We further define three diagnosis roles in each visit based on the variation of node properties to model disease transition processes. Experimental results on two real-world EHR datasets show that the proposed model outperforms state of the art in predicting health events. 

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