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Diagnosing rare diseases is an arduous and challenging process in clinical settings, resulting in the late discovery of novel variants and referral loops. To help clinicians, we built IDeRare pipelines to accelerate phenotype-genotype analysis for patients with suspected rare diseases.

To describe development and application of a checklist of criteria for selecting an automated machine learning (Auto ML) platform for use in creating clinical ML models.

[This corrects the article DOI: 10.1093/jamiaopen/ooae039.].

Anaphylaxis is a severe life-threatening allergic reaction, and its accurate identification in healthcare databases can harness the potential of "Big Data" for healthcare or public health purposes.

To enable reproducible research at scale by creating a platform that enables health data users to find, access, curate, and re-use electronic health record phenotyping algorithms.

[This corrects the article DOI: 10.1093/jamiaopen/ooae003.].

A data commons is a software platform for managing, curating, analyzing, and sharing data with a community. The Pandemic Response Commons (PRC) is a data commons designed to provide a data platform for researchers studying an epidemic or pandemic.

Electronic health record (EHR)-based patient messages can contribute to burnout. Messages with a negative tone are particularly challenging to address. In this perspective, we describe our initial evaluation of large language model (LLM)-generated responses to negative EHR patient messages and contend that using LLMs to generate initial drafts may be feasible, although refinement will be needed.

To evaluate patient-reported experiences of telehealth and disparities in access, use, and satisfaction with telehealth during the COVID-19 pandemic.

Natural language processing (NLP) can enhance research on activities of daily living (ADL) by extracting structured information from unstructured electronic health records (EHRs) notes. This review aims to give insight into the state-of-the-art, usability, and performance of NLP systems to extract information on ADL from EHRs.