Genetic InfoMax: Exploring Mutual Information Maximization in High-Dimensional Imaging Genetics Studies

Genome-wide association studies (GWAS) are used to identify relationships between genetic variations and specific traits. When applied to high-dimensional medical imaging data, a key step is to extract lower-dimensional, yet informative representations of the data as traits. Representation learning for imaging genetics is largely under-explored due to the unique challenges posed by GWAS in comparison to typical visual representation learning. In this study, we tackle this problem from the mutual information (MI) perspective by identifying key limitations of existing methods. We introduce a trans-modal learning framework Genetic InfoMax (GIM), including a regularized MI estimator and a novel genetics-informed transformer to address the specific challenges of GWAS. We evaluate GIM on human brain 3D MRI data and establish standardized evaluation protocols to compare it to existing approaches. Our results demonstrate the effectiveness of GIM and a significantly improved performance on GWAS.

PheME: A deep ensemble framework for improving phenotype prediction from multi-modal data

Detailed phenotype information is fundamental to accurate diagnosis and risk estimation of diseases. As a rich source of phenotype information, electronic health records (EHRs) promise to empower diagnostic variant interpretation. However, how to accurately and efficiently extract phenotypes from the heterogeneous EHR data remains a challenge. In this work, we present PheME, an Ensemble framework using Multi-modality data of structured EHRs and unstructured clinical notes for accurate Phenotype prediction. Firstly, we employ multiple deep neural networks to learn reliable representations from the sparse structured EHR data and redundant clinical notes. A multi-modal model then aligns multi-modal features onto the same latent space to predict phenotypes. Secondly, we leverage ensemble learning to combine outputs from single-modal models and multi-modal models to improve phenotype predictions. We choose seven diseases to evaluate the phenotyping performance of the proposed framework. Experimental results show that using multi-modal data significantly improves phenotype prediction in all diseases, the proposed ensemble learning framework can further boost the performance.

Simple Recurrent Neural Networks is all we need for clinical events predictions using EHR data

Recently, there is great interest to investigate the application of deep learning models for the prediction of clinical events using electronic health records (EHR) data. In EHR data, a patient's history is often represented as a sequence of visits, and each visit contains multiple events. As a result, deep learning models developed for sequence modeling, like recurrent neural networks (RNNs) are common architecture for EHR-based clinical events predictive models. While a large variety of RNN models were proposed in the literature, it is unclear if complex architecture innovations will offer superior predictive performance. In order to move this field forward, a rigorous evaluation of various methods is needed. In this study, we conducted a thorough benchmark of RNN architectures in modeling EHR data. We used two prediction tasks: the risk for developing heart failure and the risk of early readmission for inpatient hospitalization. We found that simple gated RNN models, including GRUs and LSTMs, often offer competitive results when properly tuned with Bayesian Optimization, which is in line with similar to findings in the natural language processing (NLP) domain. For reproducibility, Our codebase is shared at https://github.com/ZhiGroup/pytorch_ehr.

Med-BERT: pre-trained contextualized embeddings on large-scale structured electronic health records for disease prediction

Deep learning (DL) based predictive models from electronic health records (EHR) deliver impressive performance in many clinical tasks. Large training cohorts, however, are often required to achieve high accuracy, hindering the adoption of DL-based models in scenarios with limited training data size. Recently, bidirectional encoder representations from transformers (BERT) and related models have achieved tremendous successes in the natural language processing domain. The pre-training of BERT on a very large training corpus generates contextualized embeddings that can boost the performance of models trained on smaller datasets. We propose Med-BERT, which adapts the BERT framework for pre-training contextualized embedding models on structured diagnosis data from 28,490,650 patients EHR dataset. Fine-tuning experiments are conducted on two disease-prediction tasks: (1) prediction of heart failure in patients with diabetes and (2) prediction of pancreatic cancer from two clinical databases. Med-BERT substantially improves prediction accuracy, boosting the area under receiver operating characteristics curve (AUC) by 2.02-7.12%. In particular, pre-trained Med-BERT substantially improves the performance of tasks with very small fine-tuning training sets (300-500 samples) boosting the AUC by more than 20% or equivalent to the AUC of 10 times larger training set. We believe that Med-BERT will benefit disease-prediction studies with small local training datasets, reduce data collection expenses, and accelerate the pace of artificial intelligence aided healthcare.