Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Ontologies have long been employed in the life sciences to formally represent and reason
over domain knowledge and they are employed in almost every major biological database …

The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …

To enhance phenotype recognition in clinical notes of genetic diseases, we developed two
models—PhenoBCBERT and PhenoGPT—for expanding the vocabularies of Human …

Up to 350 million people worldwide suffer from a rare disease, and while the individual
diseases are rare, in aggregate they represent a substantial challenge to global health …

Background Free-text descriptions in electronic health records (EHRs) can be of interest for
clinical research and care optimization. However, free text cannot be readily interpreted by a …

As genetics becomes increasingly integrated into all areas of health care and the use of
complex genetic tests continues to grow, the clinical genetics workforce will likely face …

Background Clinical interpretation of genetic variants in the context of the patient's
phenotype is becoming the largest component of cost and time expenditure for genome …

Generalist Large Language Models (LLMs), such as GPT-4, have shown considerable
promise in various domains, including medical diagnosis. Rare diseases, affecting …

The diagnosis of Mendelian disorders requires labor-intensive literature research. Trained
clinicians can spend hours looking for the right publication (s) supporting a single gene that …