Sex disparities and trends in stroke incidence, prevalence, and mortality in the US and worldwide: Findings from the global burden of disease, 1990-2021.

Background: Stroke is a leading cause of death/disability, with notable differences in incidence, prevalence, and mortality observed. Despite advancement in stroke research, notable gaps persist in understanding the overall trend and sex-specific disparities in stroke burden over the past three decades, both in the United States of America (USA) and globally.

Aims: This observational-study aims to investigate evolving trends and sex-specific disparities in the incidence, prevalence, and mortality of stroke in the USA and globally from 1990 to 2021.

GREGoR: Accelerating Genomics for Rare Diseases.

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis.

Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation.

Background: Diagnosing rare genetic disorders relies on precise phenotypic and genotypic analysis, with the Human Phenotype Ontology (HPO) providing a standardized language for capturing clinical phenotypes. Traditional HPO tools, such as Doc2HPO and ClinPhen, employ concept recognition to automate phenotype extraction but struggle with incomplete phenotype assignment, often requiring intensive manual review. While large language models (LLMs) hold promise for more context-driven phenotype extraction, they are prone to errors and "hallucinations," making them less reliable without further refinement.