A5046642589- Genetic Associations and Epidemiology
- Cognitive Abilities and Testing
- Congenital heart defects research
- Advanced Causal Inference Techniques
- Retinal Imaging and Analysis
- Congenital Heart Disease Studies
- Diet, Metabolism, and Disease
- Retinal Diseases and Treatments
- Microbial Metabolism and Applications
- Genomics and Rare Diseases
- Cerebrovascular and genetic disorders
- Global Cancer Incidence and Screening
- Liver Disease Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Cardiovascular Disease and Adiposity
- Cardiovascular Health and Risk Factors
- Global Health Workforce Issues
- Genetic Mapping and Diversity in Plants and Animals
- Nutritional Studies and Diet
- Heart Rate Variability and Autonomic Control
- Down syndrome and intellectual disability research
- Genomic variations and chromosomal abnormalities
- Health, Environment, Cognitive Aging
- Bioinformatics and Genomic Networks
- Dye analysis and toxicity
Alnylam Pharmaceuticals (United States)
2022-2025
Emory University
2019-2022
Quantitative BioSciences
2018
Abstract Identifying genetic variants associated with lower waist-to-hip ratio can reveal new therapeutic targets for abdominal obesity. We use exome sequences from 362,679 individuals to identify genes adjusted BMI (WHRadjBMI), a surrogate fat that is causally linked type 2 diabetes and coronary heart disease. Predicted loss of function (pLOF) in INHBE associate WHRadjBMI this association replicates data AMP-T2D-GENES. encodes secreted protein, the hepatokine activin E. In vitro...
Atrioventricular septal defects (AVSD) are a severe congenital heart defect present in individuals with Down syndrome (DS) at > 2000-fold increased prevalence compared to the general population. This study aimed identify risk-associated genes and pathways examine potential polygenic contribution AVSD DS. We analyzed total cohort of 702 DS or without AVSD, genomic data from whole exome sequencing, genome and/or array-based imputation. utilized sequence kernel association testing risk score...
In 1995, journalist Gary Taubes published an article in Science titled “Epidemiology faces its limits,” which questioned the utility of nonrandomized epidemiologic research and has since been cited more than 1000 times. He highlighted numerous examples topics he viewed as having questionable merit. Studies have accumulated for these associations. We systematically evaluated current evidence 53 example associations discussed article. Approximately one-quarter those presented doubtful are now...
Abstract Genetic studies of psychiatric disorders often deal with phenotypes that are not directly measurable. Instead, researchers rely on multivariate symptom data from questionnaires and surveys like the PTSD Symptom Scale (PSS) Beck Depression Inventory (BDI) to indirectly assess a latent phenotype interest. Researchers subsequently collapse such questionnaire into univariate outcome represent surrogate for phenotype. However, when causal variant is only associated subset collapsed...
Background: Hypertension is a major preventable risk factor for cardiovascular (CV) disease. Emerging evidence suggests that in addition to blood pressure (BP) levels, controlling the consistency of BP key determinant clinical outcomes. We aimed assess effects control on adverse CV and renal outcomes using two metrics: long-term variability systolic (LT-BPV) degree at which achieved, known as cumulative load (CBPL). Methods: collected clinic (SBP) measurements from UK Biobank primary care...
ABSTRACT Age-related macular degeneration (AMD) is a leading cause of blindness among older adults worldwide, but treatment options are limited. Prior genetics studies have implicated the CFH locus, which contains and five CFHR1-5 genes, in AMD. While gene has been robustly linked with AMD risk, potential additional role CFHR genes remains unclear, strong linkage disequilibrium across locus hindering identification individual contributions. Investigation rare coding variants can help to...
A single gene can produce multiple transcripts with distinct molecular functions. Rare-variant association tests often aggregate all coding variants across individual genes, without accounting for the variants' presence or consequence in resulting transcript isoforms. To evaluate utility of transcript-aware variant sets, rare predicted loss-of-function (pLOF) were aggregated 17,035 protein-coding genes using 55,558 transcript-specific sets. These sets tested their 728 circulating proteins...
ABSTRACT Genetic studies of psychiatric disorders often deal with phenotypes that are not directly measurable. Instead, researchers rely on multivariate symptom data from questionnaires and surveys like the PTSD Symptom Scale (PSS) Beck Depression Inventory (BDI) to indirectly assess a latent phenotype interest. Researchers subsequently collapse such questionnaire into univariate outcome represent surrogate for phenotype. However, when causal variant is only associated subset collapsed...
Abstract Genomewide association studies increasingly employ multivariate tests of multiple correlated phenotypes to exploit likely pleiotropy improve power. Typical methods produce a global p-value between variant (or set variants) and phenotypes. When the test is significant, subsequent interest then focuses on dissecting signal and, in particular, delineating where genetic variant(s) have direct effect from remaining possess either indirect or no effect. While existing techniques like...