Related papers: Ontologizing Health Systems Data at Scale: Making …
Motivation: Ontologies are widely used in biology for data annotation, integration, and analysis. In addition to formally structured axioms, ontologies contain meta-data in the form of annotation axioms which provide valuable pieces of…
Representation learning on electronic health records (EHRs) plays a vital role in downstream medical prediction tasks. Although natural language processing techniques, such as recurrent neural networks, and self-attention, have been adapted…
Electronic Health Records are electronic data generated during or as a byproduct of routine patient care. Structured, semi-structured and unstructured EHR offer researchers unprecedented phenotypic breadth and depth and have the potential…
Despite the large number of patients in Electronic Health Records (EHRs), the subset of usable data for modeling outcomes of specific phenotypes are often imbalanced and of modest size. This can be attributed to the uneven coverage of…
Exponential growth in heterogeneous healthcare data arising from electronic health records (EHRs), medical imaging, wearable sensors, and biomedical research has accelerated the adoption of data lakes and centralized architectures capable…
Healthcare data are generated in many different formats, which makes it difficult to integrate and reuse across institutions and studies. Standardisation is required to enable consistent large-scale analysis. The OMOP-CDM, developed by the…
Electronic Health Records (EHR) are data generated during routine clinical care. EHR offer researchers unprecedented phenotypic breadth and depth and have the potential to accelerate the pace of precision medicine at scale. A main EHR…
Rare diseases pose significant challenges in diagnosis and treatment due to their low prevalence and heterogeneous clinical presentations. Unstructured clinical notes contain valuable information for identifying rare diseases, but manual…
Imaging data is one of the most important fundamentals in the current life sciences. We aimed to construct an ontology to describe imaging metadata as a data schema of the integrated database for optical and electron microscopy images…
The extraction of phenotype information which is naturally contained in electronic health records (EHRs) has been found to be useful in various clinical informatics applications such as disease diagnosis. However, due to imprecise…
Ontology Matching (OM) plays an important role in many domains such as bioinformatics and the Semantic Web, and its research is becoming increasingly popular, especially with the application of machine learning (ML) techniques. Although the…
Biomedical researchers use ontologies to annotate their data with ontology terms, enabling better data integration and interoperability. However, the number, variety and complexity of current biomedical ontologies make it cumbersome for…
There is a growing interest in using a longitudinal observational databases to detect drug safety signal. In this paper we present a novel method, which we used online during the OMOP Cup. We consider homogeneous ensembling, which is based…
Electronic health record (EHR) foundation models have been an area ripe for exploration with their improved performance in various medical tasks. Despite the rapid advances, there exists a fundamental limitation: Processing unseen medical…
Although the goal of achieving semantic interoperability of electronic health records (EHRs) is pursued by many researchers, it has not been accomplished yet. In this paper, we present a proposal that smoothes out the way toward the…
Objective: Integrating EHR data with other resources is essential in rare disease research due to low disease prevalence. Such integration is dependent on the alignment of ontologies used for data annotation. The International…
Ontology matching (OM) plays an essential role in enabling semantic interoperability and integration across heterogeneous knowledge sources, particularly in the biomedical domain which contains numerous complex concepts related to diseases…
Deep phenotyping is the detailed description of patient signs and symptoms using concepts from an ontology. The deep phenotyping of the numerous physician notes in electronic health records requires high throughput methods. Over the past…
Symptom phenotypes are one of the key types of manifestations for diagnosis and treatment of various disease conditions. However, the diversity of symptom terminologies is one of the major obstacles hindering the analysis and knowledge…
This paper presents a portable phenotyping system that is capable of integrating both rule-based and statistical machine learning based approaches. Our system utilizes UMLS to extract clinically relevant features from the unstructured text…