Related papers: MIMIC-RD: Can LLMs differentially diagnose rare di…

Rare diseases pose significant challenges in diagnosis and treatment due to their low prevalence and heterogeneous clinical presentations. Unstructured clinical notes contain valuable information for identifying rare diseases, but manual…

Recent advances in artificial intelligence, particularly large language models LLMs, have shown promising capabilities in transforming rare disease research. This survey paper explores the integration of LLMs in the analysis of rare…

Multimodal large language models (MLLMs) have advanced clinical tasks for common conditions, but their performance on rare diseases remains largely untested. In rare-disease scenarios, clinicians often lack prior clinical knowledge, forcing…

Large language models (LLMs) have demonstrated impressive capabilities in disease diagnosis. However, their effectiveness in identifying rarer diseases, which are inherently more challenging to diagnose, remains an open question. Rare…

Large vision-language models (LVLMs) demonstrate strong performance in dermatology; however, evaluating diagnostic reasoning for rare conditions remains largely unexplored. Existing benchmarks focus on common diseases and assess only final…

Generalist Large Language Models (LLMs), such as GPT-4, have shown considerable promise in various domains, including medical diagnosis. Rare diseases, affecting approximately 300 million people worldwide, often have unsatisfactory clinical…

Large language models (LLMs) have demonstrated capabilities across diverse domains, yet their performance on rare disease diagnosis from narrative medical cases remains underexplored. We introduce a novel dataset of 176 symptom-diagnosis…

The identification of rare diseases from clinical notes with Natural Language Processing (NLP) is challenging due to the few cases available for machine learning and the need of data annotation from clinical experts. We propose a method…

Despite the impressive capabilities of Large Language Models (LLMs) in general medical domains, questions remain about their performance in diagnosing rare diseases. To answer this question, we aim to assess the diagnostic performance of…

Identifying disease interconnections through manual analysis of large-scale clinical data is labor-intensive, subjective, and prone to expert disagreement. While machine learning (ML) shows promise, three critical challenges remain: (1)…

An accurate differential diagnosis (DDx) is a cornerstone of medical care, often reached through an iterative process of interpretation that combines clinical history, physical examination, investigations and procedures. Interactive…

Rare diseases affect 1 in 10 Americans yet remain systematically underdocumented in clinical records. ICD-based systems cannot capture their breadth, over 50\% of Orphanet codes lack a direct ICD mapping and only 2.2\% of HPO codes have…

Rare diseases affect millions worldwide but often face limited research focus due to their low prevalence. This results in prolonged diagnoses and a lack of approved therapies. Recent advancements in Large Language Models (LLMs) have shown…

Automatic disease diagnosis has become increasingly valuable in clinical practice. The advent of large language models (LLMs) has catalyzed a paradigm shift in artificial intelligence, with growing evidence supporting the efficacy of LLMs…

Large Language Models (LLMs) are increasingly adopted across domains such as education, healthcare, and finance. In healthcare, LLMs support tasks including disease diagnosis, abnormality classification, and clinical decision-making. Among…

Large Language Models (LLMs) have revolutionized various sectors, including healthcare where they are employed in diverse applications. Their utility is particularly significant in the context of rare diseases, where data scarcity,…

Rare gynecological tumors (RGTs) present major clinical challenges due to their low incidence and heterogeneity. The lack of clear guidelines leads to suboptimal management and poor prognosis. Molecular tumor boards accelerate access to…

Automatic differential diagnosis (DDx) is an essential medical task that generates a list of potential diseases as differentials based on patient symptom descriptions. In practice, interpreting these differential diagnoses yields…

The development of large language models (LLMs) has brought unprecedented possibilities for artificial intelligence (AI) based medical diagnosis. However, the application perspective of LLMs in real diagnostic scenarios is still unclear…

Large language models (LLMs) offer a promising pre-screening tool, improving early disease detection and providing enhanced healthcare access for underprivileged communities. The early diagnosis of various diseases continues to be a…