arXiv subjects

Chunhua Weng

Publications and source records attributed to Chunhua Weng.

25 records · Page 2Linked to original sources

arXiv2024

Closing the gap between open-source and commercial large language models for medical evidence summarization

Large language models (LLMs) hold great promise in summarizing medical evidence. Most recent studies focus on the application of proprietary LLMs. Using proprietary LLMs introduces multiple risk factors, including a lack of transparency and vendor dependency. While open-source LLMs allow better transparency and customization, their performance falls short compared to proprietary ones. In this study, we investigated to what extent fine-tuning open-source LLMs can further improve their performance in summarizing medical evidence. Utilizing a benchmark dataset, MedReview, consisting of 8,161 pairs of systematic reviews and summaries, we fine-tuned three broadly-used, open-sourced LLMs, namely PRIMERA, LongT5, and Llama-2. Overall, the fine-tuned LLMs obtained an increase of 9.89 in ROUGE-L (95% confidence interval: 8.94-10.81), 13.21 in METEOR score (95% confidence interval: 12.05-14.37), and 15.82 in CHRF score (95% confidence interval: 13.89-16.44). The performance of fine-tuned LongT5 is close to GPT-3.5 with zero-shot settings. Furthermore, smaller fine-tuned models sometimes even demonstrated superior performance compared to larger zero-shot models. The above trends of improvement were also manifested in both human and GPT4-simulated evaluations. Our results can be applied to guide model selection for tasks demanding particular domain knowledge, such as medical evidence summarization.

cs.CL↗

arXiv2024

Assessing the Utility of Large Language Models for Phenotype-Driven Gene Prioritization in Rare Genetic Disorder Diagnosis

Phenotype-driven gene prioritization is a critical process in the diagnosis of rare genetic disorders for identifying and ranking potential disease-causing genes based on observed physical traits or phenotypes. While traditional approaches rely on curated knowledge graphs with phenotype-gene relations, recent advancements in large language models have opened doors to the potential of AI predictions through extensive training on diverse corpora and complex models. This study conducted a comprehensive evaluation of five large language models, including two Generative Pre-trained Transformers series, and three Llama2 series, assessing their performance across three key metrics: task completeness, gene prediction accuracy, and adherence to required output structures. Various experiments explored combinations of models, prompts, input types, and task difficulty levels. Our findings reveal that even the best-performing LLM, GPT-4, achieved an accuracy of 16.0%, which still lags behind traditional bioinformatics tools. Prediction accuracy increased with the parameter/model size. 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. However, complicated prompts are more likely to decrease the structure compliance rate, but no prompt effects on GPT-4. Compared to HPO term-based input, LLM was also able to achieve better than random prediction accuracy by taking free-text input, but slightly lower than with the HPO input. Bias analysis showed that certain genes, such as MECP2, CDKL5, and SCN1A, are more likely to be top-ranked, potentially explaining the variances observed across different datasets. This study provides valuable insights into the integration of LLMs within genomic analysis, contributing to the ongoing discussion on the utilization of advanced LLMs in clinical workflows.

q-bio.QM↗

arXiv2024

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. The rapid growth of medical evidence, which can be obtained from various sources, poses a challenge in collecting, appraising, and synthesizing the evidential information. Recent advancements in generative AI, exemplified by large language models, hold promise in facilitating the arduous task. However, developing accountable, fair, and inclusive models remains a complicated undertaking. In this perspective, we discuss the trustworthiness of generative AI in the context of automated summarization of medical evidence.

cs.AI↗

arXiv2024

A Span-based Model for Extracting Overlapping PICO Entities from RCT Publications

Objectives Extraction of PICO (Populations, Interventions, Comparison, and Outcomes) entities is fundamental to evidence retrieval. We present a novel method PICOX to extract overlapping PICO entities. Materials and Methods PICOX first identifies entities by assessing whether a word marks the beginning or conclusion of an entity. Then it uses a multi-label classifier to assign one or more PICO labels to a span candidate. PICOX was evaluated using one of the best-performing baselines, EBM-NLP, and three more datasets, i.e., PICO-Corpus, and RCT publications on Alzheimer's Disease or COVID-19, using entity-level precision, recall, and F1 scores. Results PICOX achieved superior precision, recall, and F1 scores across the board, with the micro F1 score improving from 45.05 to 50.87 (p << 0.01). 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. On the COVID-19 dataset, PICOX also outperformed the baseline and improved the micro F1 score from 77.10 to 80.32. On the AD dataset, PICOX demonstrated comparable F1 scores with higher precision when compared to the baseline. Conclusion PICOX excels in identifying overlapping entities and consistently surpasses a leading baseline across multiple datasets. Ablation studies reveal that its data augmentation strategy effectively minimizes false positives and improves precision.

cs.IR↗

arXiv2023

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. In this study, we developed two types of models: PhenoBCBERT, a BERT-based model, utilizing Bio+Clinical BERT as its pre-trained model, and PhenoGPT, a GPT-based model that can be initialized from diverse GPT models, including open-source versions such as GPT-J, Falcon, and LLaMA, as well as closed-source versions such as GPT-3 and GPT-3.5. We compared our methods with PhenoTagger, a recently developed HPO recognition tool that combines rule-based and deep learning methods. We found that our methods can extract more phenotype concepts, including novel ones not characterized by HPO. We also performed case studies on biomedical literature to illustrate how new phenotype information can be recognized and extracted. We compared current BERT-based versus GPT-based models for phenotype tagging, in multiple aspects including model architecture, memory usage, speed, accuracy, and privacy protection. We also discussed the addition of a negation step and an HPO normalization layer to the transformer models for improved HPO term tagging. In conclusion, PhenoBCBERT and PhenoGPT enable the automated discovery of phenotype terms from clinical notes and biomedical literature, facilitating automated downstream tasks to derive new biological insights on human diseases.

q-bio.QM↗

arXiv2023

Large Language Models for Granularized Barrett's Esophagus Diagnosis Classification

Diagnostic codes for Barrett's esophagus (BE), a precursor to esophageal cancer, lack granularity and precision for many research or clinical use cases. Laborious manual chart review is required to extract key diagnostic phenotypes from BE pathology reports. We developed a generalizable transformer-based method to automate data extraction. Using pathology reports from Columbia University Irving Medical Center with gastroenterologist-annotated targets, we performed binary dysplasia classification as well as granularized multi-class BE-related diagnosis classification. We utilized two clinically pre-trained large language models, with best model performance comparable to a highly tailored rule-based system developed using the same data. Binary dysplasia extraction achieves 0.964 F1-score, while the multi-class model achieves 0.911 F1-score. Our method is generalizable and faster to implement as compared to a tailored rule-based approach.

cs.CL↗

arXiv2021

Natural language processing to identify lupus nephritis phenotype in electronic health records

Systemic lupus erythematosus (SLE) is a rare autoimmune disorder characterized by an unpredictable course of flares and remission with diverse manifestations. Lupus nephritis, one of the major disease manifestations of SLE for organ damage and mortality, is a key component of lupus classification criteria. Accurately identifying lupus nephritis in electronic health records (EHRs) would therefore benefit large cohort observational studies and clinical trials where characterization of the patient population is critical for recruitment, study design, and analysis. Lupus nephritis can be recognized through procedure codes and structured data, such as laboratory tests. However, other critical information documenting lupus nephritis, such as histologic reports from kidney biopsies and prior medical history narratives, require sophisticated text processing to mine information from pathology reports and clinical notes. In this study, we developed algorithms to identify lupus nephritis with and without natural language processing (NLP) using EHR data. We developed four algorithms: a rule-based algorithm using only structured data (baseline algorithm) and three algorithms using different NLP models. The three NLP models are based on regularized logistic regression and use different sets of features including positive mention of concept unique identifiers (CUIs), number of appearances of CUIs, and a mixture of three components respectively. The baseline algorithm and the best performed NLP algorithm were external validated on a dataset from Vanderbilt University Medical Center (VUMC). Our best performing NLP model incorporating features from both structured data, regular expression concepts, and mapped CUIs improved F measure in both the NMEDW (0.41 vs 0.79) and VUMC (0.62 vs 0.96) datasets compared to the baseline lupus nephritis algorithm.

cs.LG↗