Assessing and enhancing large language models in rare disease question-answering
Despite the impressive capabilities of Large Language Models (LLMs) in general medical
domains, questions remain about their performance in diagnosing rare diseases. To answer …
domains, questions remain about their performance in diagnosing rare diseases. To answer …
[PDF][PDF] Few shot learning for phenotype-driven diagnosis of patients with rare genetic diseases
There are more than 7,000 rare diseases, some of which affect 3,500 or fewer patients in the
US. Due to clinicians' limited experience with such diseases and the considerable …
US. Due to clinicians' limited experience with such diseases and the considerable …
Genetic transformer: An innovative large language model driven approach for rapid and accurate identification of causative variants in rare genetic diseases
L Liang, Y Chen, T Wang, D Jiang, J Jin, Y Pang, Q Na… - medRxiv, 2024 - medrxiv.org
Background Identifying causative variants is crucial for the diagnosis of rare genetic
diseases. Over the past two decades, the application of genome sequencing technologies in …
diseases. Over the past two decades, the application of genome sequencing technologies in …
Artificial intelligence, medications, pharmacogenomics, and ethics
SB Haga - Pharmacogenomics, 2024 - Taylor & Francis
ABSTRACT Artificial Intelligence (AI) and Machine Learning (ML) are revolutionizing various
scientific and clinical disciplines including pharmacogenomics (PGx) by enabling the …
scientific and clinical disciplines including pharmacogenomics (PGx) by enabling the …
[HTML][HTML] Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies
M Yang, JA Kim, HS Jo, JH Park… - Journal of Korean …, 2024 - synapse.koreamed.org
Background Achieving a definitive genetic diagnosis of unexplained multiple congenital
anomalies (MCAs) in neonatal intensive care units (NICUs) infants is challenging because …
anomalies (MCAs) in neonatal intensive care units (NICUs) infants is challenging because …
[HTML][HTML] Harnessing Artificial Intelligence for Theragnostic Applications: Current Landscape and Future Directions
A Pande, A Kumar, A Anjankar - Multidisciplinary Reviews, 2024 - malque.pub
In the area of theragnostics, the use of artificial intelligence (AI) is supporting personalised
medicine methods that merge therapeutic and diagnostic techniques, which is causing the …
medicine methods that merge therapeutic and diagnostic techniques, which is causing the …
Machine learning model to predict risk assessment of a child inheriting a genetic disorder
M Ramaswamy, S Senthilnathan, ARI Saravanan… - bioRxiv, 2024 - biorxiv.org
Advancements in Machine Learning (ML) have revolutionised precision medicine,
particularly in predicting and preventing genetic disorders. This study provides a …
particularly in predicting and preventing genetic disorders. This study provides a …
[PDF][PDF] Applications and Future Perspectives of Artificial Intelligence in Cardiovascular
MA Chowdhury, R Rizk, C Chiu, JJ Zhang, JL Scholl… - 2024 - preprints.org
The application of artificial intelligence (AI) and machine learning (ML) in medicine and
healthcare has been extensively explored across various areas. AI and ML can revolutionize …
healthcare has been extensively explored across various areas. AI and ML can revolutionize …
An Algorithm Improves Genetic Diagnosis of Rare Diseases
R Robinson - Neurology Today, 2024 - journals.lww.com
A new artificial intelligence algorithm called AI MARRVEL (Model organism Aggregated
Resources for Rare Variant Exploration) trained on data from several large databases of …
Resources for Rare Variant Exploration) trained on data from several large databases of …