A5083739471- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Gene expression and cancer classification
- Genomics and Rare Diseases
- Pharmacogenetics and Drug Metabolism
- SARS-CoV-2 and COVID-19 Research
- RNA modifications and cancer
- Hearing, Cochlea, Tinnitus, Genetics
- Genetics and Neurodevelopmental Disorders
- Genetics, Bioinformatics, and Biomedical Research
- Ear Surgery and Otitis Media
- Pharmacological Effects of Natural Compounds
- Cerebrovascular and Carotid Artery Diseases
- Medicinal Plant Pharmacodynamics Research
- Folate and B Vitamins Research
- Hearing Loss and Rehabilitation
- Artificial Intelligence in Healthcare and Education
- Statistical Methods in Clinical Trials
- Traditional Chinese Medicine Analysis
- Venous Thromboembolism Diagnosis and Management
- Catalytic Processes in Materials Science
- Zeolite Catalysis and Synthesis
- interferon and immune responses
- Machine Learning in Healthcare
- Diagnosis and Treatment of Venous Diseases
Stanford University
2021-2025
The Affiliated Yongchuan Hospital of Chongqing Medical University
2025
Chongqing Medical University
2025
University of Pennsylvania
2018-2021
Pennsylvania State University
2017-2018
ZheJiang Institute For Food and Drug Control
2009
0. Abstract Background The integration of large language models (LLMs) in healthcare offers immense opportunity to streamline tasks, but also carries risks such as response accuracy and bias perpetration. To address this, we conducted a red-teaming exercise assess LLMs developed dataset clinically relevant scenarios for future teams use. Methods We convened 80 multi-disciplinary experts evaluate the performance popular across multiple medical scenarios. Teams composed clinicians, engineering...
Genes act in concert with each other specific contexts to perform their functions. Determining how these genes influence complex traits requires a mechanistic understanding of expression regulation across different conditions. It has been shown that this insight is critical for developing new therapies. Transcriptome-wide association studies have helped uncover the role individual disease-relevant mechanisms. However, modern models architecture predict gene-gene interactions play crucial...
Recent studies have linked disrupted cerebral hemodynamics, including pulsatility index (PI) and wall shear stress (WSS), with neuroimaging features of small vessel disease (CSVD). Cerebral neurovascular coupling (NVC) dysfunction is an important pathophysiological mechanism CSVD. However, evidence linking the carotid artery hemodynamics to NVC still lacking. This study aimed explore impact PI WSS on cognitive performance in CSVD patients using neuroimaging. included 52 41 healthy controls....
Pharmacogenomics (PGx) aims to utilize a patient's genetic data enable safer and more effective prescribing of medications. The Clinical Pharmacogenetics Implementation Consortium (CPIC) provides guidelines with strong evidence for 24 genes that affect 72 Despite linking PGx alleles drug response, there is large gap in the implementation return actionable pharmacogenetic findings patients standard clinical practice. In this study, we evaluated opportunities genetically guided medication...
Red teaming, the practice of adversarially exposing unexpected or undesired model behaviors, is critical towards improving equity and accuracy large language models, but non-model creator-affiliated red teaming scant in healthcare. We convened teams clinicians, medical engineering students, technical professionals (80 participants total) to stress-test models with real-world clinical cases categorize inappropriate responses along axes safety, privacy, hallucinations/accuracy, bias. Six...
Machine learning methods have gained popularity and practicality in identifying linear non-linear effects of variants associated with complex disease/traits. Detection epistatic interactions still remains a challenge due to the large number features relatively small sample size as input, thus leading so-called "short fat data" problem. The efficiency machine can be increased by limiting input features. Thus, it is very important perform variable selection before searching for epistasis. Many...
As a type of relatively new methodology, the transcriptome-wide association study (TWAS) has gained interest due to capacity for gene-level testing. However, development TWAS outpaced statistical evaluation gene prioritization performance. Current methods vary in underlying biological assumptions about tissue specificity transcriptional regulatory mechanisms. In previous from our group, this may have affected whether better identified associations single tissues versus multiple tissues. We...
Loss or absence of hearing is common at both extremes human lifespan, in the forms congenital deafness and age-related loss. While these are often studied separately, there increasing evidence that their genetic basis least partially overlapping. In particular, rare variants genes associated with monogenic loss also contribute to more polygenic Here, we directly test this model Penn Medicine BioBank–a healthcare system cohort around 40,000 individuals linked electronic health record data. We...
Pharmacogenomics (PGx) investigates the genetic influence on drug response and is an integral part of precision medicine. While PGx testing becoming more common in clinical practice may be reimbursed by Medicare/Medicaid commercial insurance, interpreting results for decision support still a challenge. The Clinical Annotation Tool (PharmCAT) has been designed to tackle need transparent, automatic interpretations patient data. PharmCAT incorporates patient's genotypes, annotates information...
Abstract Genes act in concert with each other specific contexts to perform their functions. Determining how these genes influence complex traits requires a mechanistic understanding of expression regulation across different conditions. It has been shown that this insight is critical for developing new therapies. In regard, the role individual disease-relevant mechanisms can be hypothesized transcriptome-wide association studies (TWAS), which have represented significant step forward testing...
Objective To investigate the importance of rare variants in adult‐onset hearing loss. Study Design Genomic association study. Setting Large biobank from tertiary care center. Methods We investigated (minor allele frequency <5%) 42 autosomal dominant (DFNA) postlingual loss (HL) genes 16,657 unselected individuals Penn Medicine Biobank. determined prevalence known pathogenic and predicted deleterious subjects with audiometric‐proven sensorineural scanned across DFNA HL to determine those...
Abstract Understanding genetic factors of complex traits across ancestry groups holds a key to improve the overall health care quality for diverse populations in United States. In recent years, multiple electronic record-linked (EHR-linked) biobanks have recruited participants backgrounds; these make it possible obtain phenome-wide association study (PheWAS) summary statistics on genome-wide scale different groups. Moreover, advancement bioinformatics methods provide novel means accelerate...
1. Abstract Accurate disease risk stratification can lead to more precise and personalized prevention treatment of diseases. As an important component risk, genetic factors be utilized as early stable predictor for onset. Recently, the polygenic score (PRS) method has combined effects from hundreds millions single nucleotide polymorphisms (SNPs) into a that used stratification. However, current PRS approaches only utilize additive associations between SNPs in one-dimensional score. Here, we...
Abstract Background Pharmacogenomics (PGx) aims to utilize a patient’s genetic data enable safer and more effective prescribing of medications. The Clinical Pharmacogenetics Implementation Consortium (CPIC) provides guidelines with strong evidence for 24 genes that affect 72 Despite linking PGx alleles drug response, there is large gap in the implementation return actionable pharmacogenetic findings patients standard clinical practice. In this study, we evaluated opportunities genetically...
"Cookie-bite" or U-shaped audiograms-specifically, those showing midfrequency sensorineural hearing loss (HL)-are traditionally taught to be associated with genetic HL; however, their utility as a screening tool has not been reported. We aim determine the performance of cookie-bite audiogram shape in stratifying patients carrying putative loss-of-function variants known HL genes from wild-type controls. merged audiometric and exome sequencing data adults enrolled large biobank at tertiary...