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Found 6 papers, 1 papers with code
Assessing the Utility of Large Language Models for Phenotype-Driven Gene Prioritization in Rare Genetic Disorder Diagnosis
A similar increasing trend was observed for the task completion rate, with complicated prompts more likely to increase task completeness in models smaller than GPT-4.
A Span-based Model for Extracting Overlapping PICO Entities from RCT Publications
On the PICO-Corpus, PICOX obtained higher recall and F1 scores than the baseline and improved the micro recall score from 56. 66 to 67. 33.
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts
Many rare genetic diseases have distinctive facial features, which can be used by artificial intelligence algorithms to facilitate clinical diagnosis, in prioritizing candidate diseases to be further examined by lab tests or genetic assays, or in helping the phenotype-driven reinterpretation of genome/exome sequencing data.
Leveraging Generative AI for Clinical Evidence Summarization Needs to Ensure Trustworthiness
Evidence-based medicine promises to improve the quality of healthcare by empowering medical decisions and practices with the best available evidence.
Large Language Models for Granularized Barrett's Esophagus Diagnosis Classification
We developed a generalizable transformer-based method to automate data extraction.
Enhancing Phenotype Recognition in Clinical Notes Using Large Language Models: PhenoBCBERT and PhenoGPT
We hypothesize that large language models (LLMs) based on the transformer architecture can enable automated detection of clinical phenotype terms, including terms not documented in the HPO.
