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The vast and complex nature of human genomic sequencing data presents challenges for effective analysis. This review aims to investigate the application of natural language processing (NLP) techniques, particularly large language models (LLMs) and transformer architectures, in deciphering genomic codes, focusing on tokenization, transformer models, and regulatory annotation prediction. The goal of this review is to assess data and model accessibility in the most recent literature, gaining a better understanding [...]

Accurate, complete allergy histories are critical for decision-making and medication prescription. However, allergy information is often spread across the electronic health record (EHR); thus, allergy lists are often inaccurate or incomplete. Discrepant allergy information can lead to suboptimal or unsafe clinical care and contribute to alert fatigue. We developed an allergy reconciliation module within Mass General Brigham (MGB)'s EHR to support accurate and intuitive reconciliation of discrepancies in the allergy [...]

To identify distinct patterns in consumer willingness to share health data with various stakeholders and analyze characteristics across consumer groups.

Data extraction from the published literature is the most laborious step in conducting living systematic reviews (LSRs). We aim to build a generalizable, automated data extraction workflow leveraging large language models (LLMs) that mimics the real-world 2-reviewer process.

The objectives of this study are to synthesize findings from recent research of retrieval-augmented generation (RAG) and large language models (LLMs) in biomedicine and provide clinical development guidelines to improve effectiveness.

Diagnosis codes documented in electronic health records (EHR) are often relied upon to clinically phenotype patients for biomedical research. However, these diagnoses can be incomplete and inaccurate, leading to false negatives when searching for patients with phenotypes of interest. This study aims to determine whether PheMAP, a comprehensive knowledgebase integrating multiple clinical terminologies beyond diagnosis to capture phenotypes, can effectively identify patients lacking relevant EHR diagnosis codes.

Building upon our previous work on predicting chronic opioid use using electronic health records (EHR) and wearable data, this study leveraged the Health Equity Across the AI Lifecycle (HEAAL) framework to (a) fine tune the previously built model with genomic data and evaluate model performance in predicting chronic opioid use and (b) apply IBM's AIF360 pre-processing toolkit to mitigate bias related to gender and race and evaluate the model performance [...]

To develop a corpus annotated for diet-microbiome associations from the biomedical literature and train natural language processing (NLP) models to identify these associations, thereby improving the understanding of their role in health and disease, and supporting personalized nutrition strategies.

Heightened muscular effort and breathlessness (dyspnea) are disabling sensory experiences. We sought to improve the current approach of assessing these symptoms only at the maximal effort to new paradigms based on their continuous quantification throughout cardiopulmonary exercise testing (CPET).

Patient portals bridge patient and provider communications but exacerbate physician and nursing burnout. Large language models (LLMs) can generate message responses that are viewed favorably by healthcare professionals; however, these studies have not included diverse message types or new prompt-engineering strategies. Our goal is to investigate and compare the quality and precision GPT-generated message responses versus real doctor responses across the spectrum of message types within a patient portal.