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The Phenotype Risk Score (PheRS) is a method to detect Mendelian disease patterns using phenotypes from the electronic health record (EHR). We compared the performance of different approaches mapping EHR phenotypes to Mendelian disease features.

Neural network-based representations ("embeddings") have dramatically advanced natural language processing (NLP) tasks, including clinical NLP tasks such as concept extraction. Recently, however, more advanced embedding methods and representations (eg, ELMo, BERT) have further pushed the state of the art in NLP, yet there are no common best practices for how to integrate these representations into clinical tasks. The purpose of this study, then, is to explore the space of possible [...]

The study sought to explore to what extent geolocation data has been used to study serious mental illness (SMI). SMIs such as bipolar disorder and schizophrenia are characterized by fluctuating symptoms and sudden relapse. Currently, monitoring of people with an SMI is largely done through face-to-face visits. Smartphone-based geolocation sensors create opportunities for continuous monitoring and early intervention.

This article presents a novel method of semisupervised learning using convolutional autoencoders for optical endomicroscopic images. Optical endomicroscopy (OE) is a newly emerged biomedical imaging modality that can support real-time clinical decisions for the grade of dysplasia. To enable real-time decision making, computer-aided diagnosis (CAD) is essential for its high speed and objectivity. However, traditional supervised CAD requires a large amount of training data. Compared with the limited number of [...]

Clinical genome sequencing laboratories return reports containing clinical testing results, signed by a board-certified clinical geneticist, to the ordering physician. This report is often a PDF, but can also be a paper copy or a structured data file. The reports are frequently modified and reissued due to changes in variant interpretation or clinical attributes.

Our objective is to develop algorithms for encoding clinical text into representations that can be used for a variety of phenotyping tasks.

Case management programs for high-need high-cost patients are spreading rapidly among health systems. PCORNet has substantial potential to support learning health systems in rapidly evaluating these programs, but access to complete patient data on health care utilization is limited as PCORNet is based on electronic health records not health insurance claims data. Because matching cases to comparison patients on baseline utilization is often a critical component of high-quality observational comparative [...]

In multi-label text classification, each textual document is assigned 1 or more labels. As an important task that has broad applications in biomedicine, a number of different computational methods have been proposed. Many of these methods, however, have only modest accuracy or efficiency and limited success in practical use. We propose ML-Net, a novel end-to-end deep learning framework, for multi-label classification of biomedical texts.

HIV infection risk can be estimated based on not only individual features but also social network information. However, there have been insufficient studies using n machine learning methods that can maximize the utility of such information. Leveraging a state-of-the-art network topology modeling method, graph convolutional networks (GCN), our main objective was to include network information for the task of detecting previously unknown HIV infections.