Lindsay Guare
A5082827866- Genetic Associations and Epidemiology
- Endometriosis Research and Treatment
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Nutrition, Genetics, and Disease
- Biomedical Text Mining and Ontologies
- Glaucoma and retinal disorders
- Bioinformatics and Genomic Networks
- BRCA gene mutations in cancer
- Cardiovascular Health and Risk Factors
- RNA modifications and cancer
- Liver Disease Diagnosis and Treatment
- Cardiac Imaging and Diagnostics
- Retinal Diseases and Treatments
- Chronic Disease Management Strategies
- Cardiovascular Disease and Adiposity
- Gene expression and cancer classification
- Cancer Risks and Factors
- Machine Learning in Healthcare
- Thyroid Disorders and Treatments
- Long-Term Effects of COVID-19
- RNA Research and Splicing
- Ethics in Clinical Research
- Estrogen and related hormone effects
- Ovarian function and disorders
University of Pennsylvania
2022-2025
California University of Pennsylvania
2024
Michigan State University
2021-2022
The Penn Medicine BioBank (PMBB) is an electronic health record (EHR)-linked biobank at the University of Pennsylvania (Penn Medicine). A large variety health-related information, ranging from diagnosis codes to laboratory measurements, imaging data and lifestyle integrated with genomic biomarker in PMBB facilitate discoveries translational science. To date, 174,712 participants have been enrolled into PMBB, including approximately 30% non-European ancestry, making it one most diverse...
One of the justifiable criticisms human genetic studies is underrepresentation participants from diverse populations. Lack inclusion must be addressed at-scale to identify causal disease factors and understand causes health disparities. We present genome-wide associations for 2068 traits 635,969 in Department Veterans Affairs Million Veteran Program, a longitudinal study United States Veterans. Systematic analysis revealed 13,672 genomic risk loci; 1608 were only significant after including...
Summary Infections can lead to persistent or long-term symptoms and diseases such as shingles after varicella zoster, cancers human papillomavirus, rheumatic fever streptococcal infections 1, 2 . Similarly, infection by SARS-CoV-2 result in Long COVID, a condition characterized of fatigue pulmonary cognitive dysfunction 3–5 The biological mechanisms that contribute the development COVID remain be clarified. We leveraged COVID-19 Host Genetics Initiative 6, 7 perform genome-wide association...
Abstract Genome-wide association studies (GWAS) have underrepresented individuals from non-European populations, impeding progress in characterizing the genetic architecture and consequences of health disease traits. To address this, we present a population-stratified phenome-wide GWAS followed by multi-population meta-analysis for 2,068 traits derived electronic records 635,969 participants Million Veteran Program (MVP), longitudinal cohort study diverse U.S. Veterans genetically similar to...
Background: Epidemiological data suggest the population distribution of thyrotropin (TSH) values is shifted toward lower in self-identified Black non-Hispanic individuals compared with White individuals. It unknown whether genetic differences between similarities to African reference populations (GSA) and those European (GSE) contribute these observed differences. We aimed compare genome-wide associations TSH putative causal TSH-associated variants GSA GSE groups. Methods: performed...
Background: Coronary Microvascular Disease (CMVD) contributes to the large burden of ischemic heart disease, and there is a need for mechanistic insight targeted therapies. Perfusion cardiac PET allows quantitative assessment myocardial blood flow reserve (MBFR), which reflects coronary microvascular function. Here we perform first genome-wide association study (GWAS) using MBFR as measure CMVD. Methods: was measured Rubidium-82 perfusion obtained part routine clinical care. GWAS performed...
Abstract There are currently >1.3 million human –omics samples that publicly available. This valuable resource remains acutely underused because discovering particular from this ever-growing data collection a significant challenge. The major impediment is sample attributes routinely described using varied terminologies written in unstructured natural language. We propose natural-language-processing-based machine learning approach (NLP-ML) to infer tissue and cell-type annotations for...
Abstract There are currently >1.3 million human –omics samples that publicly available. This valuable resource remains acutely underused because discovering particular from this ever-growing data collection a significant challenge. The major impediment is sample attributes routinely described using varied terminologies written in unstructured natural language. We propose natural-language-processing-based machine learning approach (NLP-ML) to infer tissue and cell-type annotations for...
Endometriosis affects 10% of reproductive-age women, and yet, it goes undiagnosed for 3.6 years on average after symptoms onset. Despite large GWAS meta-analyses (N > 750,000), only a few dozen causal loci have been identified. We hypothesized that the challenges in identifying genes endometriosis stem from heterogeneity across clinical biological factors underlying diagnosis.
Women's health conditions are influenced by both genetic and environmental factors. Understanding these factors individually their interactions is crucial for implementing preventative, personalized medicine. However, since genetics exposures, particularly social determinants of (SDoH), correlated with race ancestry, risk models without careful consideration measures can exacerbate disparities. We focused on seven women's disorders in the All Us Research Program: breast cancer, cervical...
Metabolic dysfunction-associated Fatty Liver Disease (MAFLD) has emerged as one of the leading cardiometabolic diseases. Friend GATA2 (FOG2) is a transcriptional co-regulator that been shown to regulate hepatic lipid metabolism and accumulation. Using meta-analysis from several different biobank datasets, we identified coding variant FOG2 (rs28374544, A1969G, S657G) predominantly found in individuals African ancestry (minor allele frequency~20%), which associated with liver failure/cirrhosis...
Endometriosis is a complex and heterogeneous condition affecting 10% of reproductive-age women, yet, it often goes undiagnosed for several years. Limited observed heritability (7%) large genetic association studies may be attributable to underlying heterogeneity disease mechanisms. Therefore, we conducted this study investigate associations across sub-phenotypes endometriosis. We performed unsupervised clustering 4,078 women with endometriosis based on known risk factors, symptoms,...
Abstract We report the findings of a genome-wide association study (GWAS) meta-analysis endometriosis consisting large portion (31%) non-European samples across 14 biobanks worldwide as part Global Biobank Meta-Analysis Initiative (GBMI). identified 45 significant loci using wide phenotype definition, seven which are previously unreported and detected first locus ( POLR2M ) among only African-ancestry. Our narrow phenotypes surgically confirmed case definitions for analyses replicated known...
Breast density, the amount of fibroglandular versus fatty tissue in breast, is a strong breast cancer risk factor. Understanding genetic factors associated with density may help clarifying mechanisms by which increases risk. To date, 50 loci have been however, these studies were performed among predominantly European ancestry populations. We utilized cohort women aged 40–85 years who underwent screening mammography and had information available from Penn Medicine BioBank to conduct...
Most genome-wide association studies (GWAS) assume an additive inheritance model, which assigns heterozygous genotypes half the risk of homozygous-alternate genotypes. This has led to a focus on genetic effects in complex disease research. Growing evidence indicates that many single-nucleotide polymorphisms (SNPs) have nonadditive effects, including dominant and recessive are missed by model alone. To address this issue, we developed Elastic Data-Driven Encoding (EDGE) determine each SNP...