Leveraging a Joint of Phenotypic and Genetic Features on Cancer Patient Subgrouping

Cancer is responsible for millions of deaths worldwide every year. Although significant progress has been achieved in cancer medicine, many issues remain to be addressed for improving cancer therapy. Appropriate cancer patient stratification is the prerequisite for selecting appropriate treatment plan, as cancer patients are of known heterogeneous genetic make-ups and phenotypic differences. In this study, built upon deep phenotypic characterizations extractable from Mayo Clinic electronic health records (EHRs) and genetic test reports for a collection of cancer patients, we developed a system leveraging a joint of phenotypic and genetic features for cancer patient subgrouping. The workflow is roughly divided into three parts: feature preprocessing, cancer patient classification, and cancer patient clustering based. In feature preprocessing step, we performed filtering, retaining the most relevant features. In cancer patient classification, we utilized joint categorical features to build a patient-feature matrix and applied nine different machine learning models, Random Forests (RF), Decision Tree (DT), Support Vector Machine (SVM), Naive Bayes (NB), Logistic Regression (LR), Multilayer Perceptron (MLP), Gradient Boosting (GB), Convolutional Neural Network (CNN), and Feedforward Neural Network (FNN), for classification purposes. Finally, in the cancer patient clustering step, we leveraged joint embeddings features and patient-feature associations to build an undirected feature graph and then trained the cancer feature node embeddings.

Comparisons of Graph Neural Networks on Cancer Classification Leveraging a Joint of Phenotypic and Genetic Features

Cancer is responsible for millions of deaths worldwide every year. Although significant progress hasbeen achieved in cancer medicine, many issues remain to be addressed for improving cancer therapy.Appropriate cancer patient stratification is the prerequisite for selecting appropriate treatment plan, ascancer patients are of known heterogeneous genetic make-ups and phenotypic differences. In thisstudy, built upon deep phenotypic characterizations extractable from Mayo Clinic electronic healthrecords (EHRs) and genetic test reports for a collection of cancer patients, we evaluated variousgraph neural networks (GNNs) leveraging a joint of phenotypic and genetic features for cancer typeclassification. Models were applied and fine-tuned on the Mayo Clinic cancer disease dataset. Theassessment was done through the reported accuracy, precision, recall, and F1 values as well as throughF1 scores based on the disease class. Per our evaluation results, GNNs on average outperformed thebaseline models with mean statistics always being higher that those of the baseline models (0.849 vs0.772 for accuracy, 0.858 vs 0.794 for precision, 0.843 vs 0.759 for recall, and 0.843 vs 0.855 for F1score). Among GNNs, ChebNet, GraphSAGE, and TAGCN showed the best performance, while GATshowed the worst. We applied and compared eight GNN models including AGNN, ChebNet, GAT,GCN, GIN, GraphSAGE, SGC, and TAGCN on the Mayo Clinic cancer disease dataset and assessedtheir performance as well as compared them with each other and with more conventional machinelearning models such as decision tree, gradient boosting, multi-layer perceptron, naive bayes, andrandom forest which we used as the baselines.

Development of Clinical Concept Extraction Applications: A Methodology Review

Our study provided a review of the development of clinical concept extraction applications from January 2009 to June 2019. We hope, through the studying of different approaches with variant clinical context, can enhance the decision making for the development of clinical concept extraction.

How Good is Artificial Intelligence at Automatically Answering Consumer Questions Related to Alzheimer's Disease?

Alzheimer's Disease (AD) is the most common type of dementia, comprising 60-80% of cases. There were an estimated 5.8 million Americans living with Alzheimer's dementia in 2019, and this number will almost double every 20 years. The total lifetime cost of care for someone with dementia is estimated to be $350,174 in 2018, 70% of which is associated with family-provided care. Most family caregivers face emotional, financial and physical difficulties. As a medium to relieve this burden, online communities in social media websites such as Twitter, Reddit, and Yahoo! Answers provide potential venues for caregivers to search relevant questions and answers, or post questions and seek answers from other members. However, there are often a limited number of relevant questions and responses to search from, and posted questions are rarely answered immediately. Due to recent advancement in Artificial Intelligence (AI), particularly Natural Language Processing (NLP), we propose to utilize AI to automatically generate answers to AD-related consumer questions posted by caregivers and evaluate how good AI is at answering those questions. To the best of our knowledge, this is the first study in the literature applying and evaluating AI models designed to automatically answer consumer questions related to AD.

Cross-lingual Data Transformation and Combination for Text Classification

Text classification is a fundamental task for text data mining. In order to train a generalizable model, a large volume of text must be collected. To address data insufficiency, cross-lingual data may occasionally be necessary. Cross-lingual data sources may however suffer from data incompatibility, as text written in different languages can hold distinct word sequences and semantic patterns. Machine translation and word embedding alignment provide an effective way to transform and combine data for cross-lingual data training. To the best of our knowledge, there has been little work done on evaluating how the methodology used to conduct semantic space transformation and data combination affects the performance of classification models trained from cross-lingual resources. In this paper, we systematically evaluated the performance of two commonly used CNN (Convolutional Neural Network) and RNN (Recurrent Neural Network) text classifiers with differing data transformation and combination strategies. Monolingual models were trained from English and French alongside their translated and aligned embeddings. Our results suggested that semantic space transformation may conditionally promote the performance of monolingual models. Bilingual models were trained from a combination of both English and French. Our results indicate that a cross-lingual classification model can significantly benefit from cross-lingual data by learning from translated or aligned embedding spaces.

Unsupervised Machine Learning for the Discovery of Latent Disease Clusters and Patient Subgroups Using Electronic Health Records

Machine learning has become ubiquitous and a key technology on mining electronic health records (EHRs) for facilitating clinical research and practice. Unsupervised machine learning, as opposed to supervised learning, has shown promise in identifying novel patterns and relations from EHRs without using human created labels. In this paper, we investigate the application of unsupervised machine learning models in discovering latent disease clusters and patient subgroups based on EHRs. We utilized Latent Dirichlet Allocation (LDA), a generative probabilistic model, and proposed a novel model named Poisson Dirichlet Model (PDM), which extends the LDA approach using a Poisson distribution to model patients' disease diagnoses and to alleviate age and sex factors by considering both observed and expected observations. In the empirical experiments, we evaluated LDA and PDM on three patient cohorts with EHR data retrieved from the Rochester Epidemiology Project (REP), for the discovery of latent disease clusters and patient subgroups. We compared the effectiveness of LDA and PDM in identifying latent disease clusters through the visualization of disease representations learned by two approaches. We also tested the performance of LDA and PDM in differentiating patient subgroups through survival analysis, as well as statistical analysis. The experimental results show that the proposed PDM could effectively identify distinguished disease clusters by alleviating the impact of age and sex, and that LDA could stratify patients into more differentiable subgroups than PDM in terms of p-values. However, the subgroups discovered by PDM might imply the underlying patterns of diseases of greater interest in epidemiology research due to the alleviation of age and sex. Both unsupervised machine learning approaches could be leveraged to discover patient subgroups using EHRs but with different foci.