The interpretability of gait analysis studies in people with rare diseases, such as those with primary hereditary cerebellar ataxia (pwCA), is frequently limited by the small sample sizes and unbalanced datasets. The purpose of this study was to asse...
PURPOSE: Rare cancers constitute over 20% of human neoplasms, often affecting patients with unmet medical needs. The development of effective classification and prognostication systems is crucial to improve the decision-making process and drive innov...
Expert review of pharmacoeconomics & outcomes research
38789406
INTRODUCTION: Preserving function and independence to perform activities of daily living (ADL) is critical for patients and carers to manage the burden of care and improve quality of life. In children living with rare diseases, video recording ADLs o...
Although rare diseases individually have a low prevalence, they collectively affect nearly 400 million individuals around the world. On average, it takes five years for an accurate rare disease diagnosis, but many patients remain undiagnosed or misdi...
BACKGROUND: Despite the frequent diagnostic delays of rare neurologic diseases (RND), it remains difficult to study RNDs and their comorbidities due to their rarity and hence the statistical underpowering. Affecting one to two in a million annually, ...
Pathogenic variants underlying Mendelian diseases often disrupt the normal physiology of a few tissues and organs. However, variant effect prediction tools that aim to identify pathogenic variants are typically oblivious to tissue contexts. Here we r...
OBJECTIVE: To conduct a comprehensive bibliometric analysis of the application of artificial intelligence (AI) in Rare diseases (RDs), with a focus on analyzing publication output, identifying leading contributors by country, assessing the extent of ...
Journal of the American Medical Informatics Association : JAMIA
38829731
OBJECTIVE: We aim to develop a novel method for rare disease concept normalization by fine-tuning Llama 2, an open-source large language model (LLM), using a domain-specific corpus sourced from the Human Phenotype Ontology (HPO).
Journal of chemical information and modeling
39689164
Rare diseases (RDs), affecting 300 million people globally, present a daunting public health challenge characterized by complexity, limited treatment options, and diagnostic hurdles. Despite legislative efforts, such as the 1983 US Orphan Drug Act, m...
The integration of rare disease medical databases belonging to different countries is an important problem, as a large number of observations are required for reliable statistical inference of patient data in order to facilitate clinical research. Su...