With the worldwide digitalisation of medical records, electronic health records (EHRs) have become an increasingly important source of real-world data (RWD). RWD can complement traditional study designs because it captures almost the complete variety...
BACKGROUND: In disease areas with 'soft' outcomes (i.e., the subjective aspects of a medical condition or its management) such as migraine or depression, extraction and validation of real-world evidence (RWE) from electronic health records (EHRs) and...
The increasing availability of biomedical data from large biobanks, electronic health records, medical imaging, wearable and ambient biosensors, and the lower cost of genome and microbiome sequencing have set the stage for the development of multimod...
Genetics in medicine : official journal of the American College of Medical Genetics
Sep 13, 2022
PURPOSE: The variable expressivity and multisystem features of Noonan syndrome (NS) make it difficult for patients to obtain a timely diagnosis. Genetic testing can confirm a diagnosis, but underdiagnosis is prevalent owing to a lack of recognition a...
BACKGROUND: Clinical procedures are often performed in outpatient clinics without prior scheduling at the administrative level, and documentation of the procedure often occurs solely in free-text clinical electronic notes. Natural language processing...
BACKGROUND: Knowledge graphs (KGs) play a key role to enable explainable artificial intelligence (AI) applications in healthcare. Constructing clinical knowledge graphs (CKGs) against heterogeneous electronic health records (EHRs) has been desired by...
OBJECTIVE: Electronic Health Record (EHR) based phenotyping is a crucial yet challenging problem in the biomedical field. Though clinicians typically determine patient-level diagnoses via manual chart review, the sheer volume and heterogeneity of EHR...
In recent years, the massive electronic medical records (EMRs) have supported the development of intelligent medical services such as treatment recommendations. However, existing treatment recommendations usually follow the traditional sequential rec...
Diagnosis for rare genetic diseases often relies on phenotype-driven methods, which hinge on the accuracy and completeness of the rare disease phenotypes in the underlying annotation knowledgebase. Existing knowledgebases are often manually curated w...
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