A5051902507- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Genetic Associations and Epidemiology
- Nutrition, Genetics, and Disease
- Cancer Genomics and Diagnostics
- Liver Disease Diagnosis and Treatment
- Health Systems, Economic Evaluations, Quality of Life
- Body Composition Measurement Techniques
- Metabolism and Genetic Disorders
- Cancer Research and Treatment
- Cardiomyopathy and Myosin Studies
- Biological Research and Disease Studies
- Liver Disease and Transplantation
- Frailty in Older Adults
- Renal Diseases and Glomerulopathies
- Molecular Biology Techniques and Applications
- Gene expression and cancer classification
- Nutrition and Health in Aging
- Hepatocellular Carcinoma Treatment and Prognosis
- Genetic Syndromes and Imprinting
- Retinal Imaging and Analysis
- Genetics, Bioinformatics, and Biomedical Research
- Retinal Diseases and Treatments
- Machine Learning in Bioinformatics
- Advanced Causal Inference Techniques
University of Pennsylvania
2022-2025
Translational Therapeutics (United States)
2022-2024
Penn Center for AIDS Research
2024
University of Pennsylvania Health System
2024
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...
Importance Polygenic risk scores (PRSs) for coronary heart disease (CHD) are a growing clinical and commercial reality. Whether existing provide similar individual-level assessments of susceptibility remains incompletely characterized. Objective To characterize the agreement CHD PRSs that perform similarly at population level. Design, Setting, Participants Cross-sectional study participants from diverse backgrounds enrolled in All Us Research Program (AOU), Penn Medicine BioBank (PMBB),...
Numerous studies have underscored the diagnostic and therapeutic potential of exome or genome sequencing in critically ill pediatric populations. However, an equivalent investigation adults remains conspicuously absent. We retrospectively analyzed whole (WES) data available through PennMedicine Biobank (PMBB) from all 365 young adult patients, aged 18-40 years, with intensive care unit (ICU) admissions at University Pennsylvania Health System who met inclusion criteria for our study. For...
The study of muscle mass as an imaging-derived phenotype (IDP) may yield new insights into determining the normal and pathologic variations in population. This can be done by 3D abdominal from 12 distinct regions groups using computed tomography (CT) a racially diverse medical biobank. To develop fully automatic technique for assessment CT IDPs preliminarily determine IDP with age sex clinically retrospective was conducted Penn Medicine BioBank (PMBB), research protocol that recruits adult...
Abstract The objective of this study is to define CT imaging derived phenotypes for patients with hepatic steatosis, a common metabolic liver condition, and determine its association patient data from medical biobank. There need further characterize steatosis in lean patients, as epidemiology may differ that overweight patients. A deep learning method determined the spleen-hepatic attenuation difference (SHAD) Hounsfield Units (HU) on abdominal scans quantitative measure steatosis. cohort...
Importance The genetic factors that modulate the reduced penetrance and variable expressivity of heritable dilated cardiomyopathy (DCM) are largely unknown. BAG3 variants have been implicated in both DCM hypertrophic (HCM), nominating as a gene harbors potential modifier DCM. Objective To interrogate clinical traits diseases associated with coding variation. Design, Setting, Participants This was cross-sectional study Penn Medicine BioBank (PMBB) enrolling patients University Pennsylvania...
In the precision medicine era, genetic diagnoses direct clinical management and lead to improved health outcomes. However, there is scant data on role of race or social determinants (SDH) in access medical genetics evaluation outcomes testing general adult population. This study examines whether race, ethnicity, measures SDH influence results
Abstract Background Glaucoma is a leading cause of worldwide irreversible blindness. Considerable uncertainty remains regarding the association between variety phenotypes and genetic risk glaucoma, as well impact they exert on glaucoma development. Methods We investigated associations liability for primary open angle (POAG) with wide range potential factors to assess its incident glaucoma. The phenome-wide study (PheWAS) approach was applied determine POAG polygenic score (PRS) in 377, 852...
Germline genetic testing is recommended for an increasing number of conditions with underlying etiologies, the results which impact medical management. However, underutilized in clinics due to system, clinician, and patient level barriers. Behavioral economics provides a framework create implementation strategies, such as nudges, address these multi-level barriers increase uptake where
Introduction: Early and accurate classification of transthyretin amyloidosis (ATTR) is crucial for improving patient outcomes. However, nonspecific symptoms heterogeneous disease variations have made ATTR diagnosis challenging. Leveraging advancements in machine learning (ML) large language models (LLMs), this study aims to enhance diagnostic accuracy by analyzing electronic health records (EHRs) data. Hypothesis: Can the integration innovative feature formulation improve performance ML...