Tiffany Eulalio
A5042400737- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- Bioinformatics and Genomic Networks
- Machine Learning in Healthcare
- RNA modifications and cancer
- Single-cell and spatial transcriptomics
- Artificial Intelligence in Healthcare and Education
- Genomics and Rare Diseases
- RNA Research and Splicing
- Genomics and Chromatin Dynamics
- Molecular Biology Techniques and Applications
- Autism Spectrum Disorder Research
- Explainable Artificial Intelligence (XAI)
- Advanced Proteomics Techniques and Applications
- Genetics, Aging, and Longevity in Model Organisms
- Housing Market and Economics
- Dementia and Cognitive Impairment Research
- Genetics and Neurodevelopmental Disorders
- Emergency and Acute Care Studies
- Genetic Syndromes and Imprinting
- COVID-19 diagnosis using AI
- Medical Coding and Health Information
- Telomeres, Telomerase, and Senescence
- Acute Myeloid Leukemia Research
- Cancer-related molecular mechanisms research
Stanford University
2020-2025
Thermo Fisher Scientific (Sweden)
2020
University of Hawaiʻi at Mānoa
2018
The Genotype-Tissue Expression (GTEx) project dissects how genetic variation affects gene expression and splicing.
Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex in gene expression and genetic regulation across 44 tissue sources surveyed by Genotype-Tissue Expression project (GTEx, v8 release). demonstrate that influences levels cellular composition samples body. A total 37% all genes sex-biased at least one tissue. identify cis quantitative trait loci (eQTLs)...
Cell type composition, estimated from bulk tissue, maps the cellular specificity of genetic variants.
Telomere length within an individual varies in a correlated manner across most tissues.
Outliers in the human transcriptome reveal functional effects of rare genetic variants.
Abstract Allele expression (AE) analysis robustly measures cis -regulatory effects. Here, we present and demonstrate the utility of a vast AE resource generated from GTEx v8 release, containing 15,253 samples spanning 54 human tissues for total 431 million measurements at SNP level 153 haplotype level. In addition, develop an extension our tool phASER that allows effect sizes variants to be estimated using haplotype-level data. This is largest date, are able make data publicly available. We...
Abstract Alzheimer’s disease (AD) is the most common cause of dementia with advancing age as its strongest risk factor. AD neuropathologic change (ADNC) known to be associated numerous DNA methylation changes in human brain, but oldest old (> 90 years) have so far been underrepresented epigenetic studies ADNC. Our study participants were individuals aged over years (n = 47) from The + Study . We analyzed bulk samples eight precisely dissected regions brain: middle frontal gyrus, cingulate...
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...
We have developed the regionalpcs method, an approach for summarizing gene-level methylation. addresses challenge of deciphering complex epigenetic mechanisms in diseases like Alzheimer's disease. In contrast to averaging, uses principal components analysis capture methylation patterns across gene regions. Our method demonstrates a 54% improvement sensitivity over averaging simulations, providing robust framework identifying subtle variations. Applying disease brain data, combined with cell...
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...
Abstract Objective To develop prediction models for intensive care unit (ICU) vs non-ICU level-of-care need within 24 hours of inpatient admission emergency department (ED) patients using electronic health record data. Materials and Methods Using records 41 654 ED visits to a tertiary academic center from 2015 2019, we tested 4 algorithms—feed-forward neural networks, regularized regression, random forests, gradient-boosted trees—to predict ICU at the 24th hour following admission....
We have developed the regional principal components (rPCs) method, a novel approach for summarizing gene-level methylation. rPCs address challenge of deciphering complex epigenetic mechanisms in diseases like Alzheimer’s disease (AD). In contrast to traditional averaging, leverage analysis capture methylation patterns across gene regions. Our method demonstrated 54% improvement sensitivity over averaging simulations, offering robust framework identifying subtle variations. Applying AD brain...
A gap remains between developing risk prediction models and deploying to support real-world decision making, especially in high-stakes situations. Human-experts' reasoning abilities remain critical identifying potential improvements ensuring safety. We propose a thick data analytics (TDA) framework for eliciting combining expert-human insight into the evaluation of models. The is 3-fold: (a) statistical methods are limited using joint distributions observable quantities predictions but often...
Abstract Precise interpretation of the effects protein-truncating variants (PTVs) is important for accurate determination variant impact. Current methods assessing ability PTVs to induce nonsense-mediated decay (NMD) focus primarily on position in transcript. We used RNA-sequencing Genotype Tissue Expression v8 cohort compute efficiency NMD using allelic imbalance 2,320 rare (genome aggregation database minor allele frequency <=1%) across 809 individuals 49 tissues. created an...