Tamar Sofer
A5031305852- Genetic Associations and Epidemiology
- Obstructive Sleep Apnea Research
- Sleep and related disorders
- Epigenetics and DNA Methylation
- Neuroscience of respiration and sleep
- Genetic Mapping and Diversity in Plants and Animals
- Cardiovascular Health and Risk Factors
- Health, Environment, Cognitive Aging
- Genetic and phenotypic traits in livestock
- Obesity, Physical Activity, Diet
- Genomics and Rare Diseases
- Birth, Development, and Health
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Sleep and Wakefulness Research
- Metabolomics and Mass Spectrometry Studies
- Bioinformatics and Genomic Networks
- Nutrition, Genetics, and Disease
- BRCA gene mutations in cancer
- Gene expression and cancer classification
- Asthma and respiratory diseases
- Cancer-related molecular mechanisms research
- Sleep and Work-Related Fatigue
- RNA modifications and cancer
- Folate and B Vitamins Research
- Nutritional Studies and Diet
Brigham and Women's Hospital
2017-2025
Harvard University
2016-2025
Beth Israel Deaconess Medical Center
2023-2025
Hadassah Medical Center
2024-2025
Circadian (United States)
2017-2024
Harvard University Press
2020-2024
Boston University
2023-2024
Cardiovascular Institute of the South
2024
Deaconess Hospital
2024
University of Miami
2024
Abstract Summary The Genomic Data Storage (GDS) format provides efficient storage and retrieval of genotypes measured by microarrays sequencing. We developed GENESIS to perform various single- aggregate-variant association tests using genotype data stored in GDS format. implements highly flexible mixed models, allowing for different link functions, multiple variance components phenotypic heteroskedasticity. integrates cohesively with other R/Bioconductor packages build a complete genomic...
Abstract Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes 1,2 and molecular mechanisms are often specific to cell type 3,4 . Here, characterize the genetic contribution these across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases T2D. We identify 1,289 independent signals at significance ( P < 5 × 10 −8 ) map 611 loci, which 145...
Rationale: Randomized controlled trials have been unable to detect a cardiovascular benefit of continuous positive airway pressure in unselected patients with obstructive sleep apnea (OSA). We hypothesize that deleterious outcomes are concentrated subgroup heightened pulse-rate response apneas and hypopneas (ΔHR). Methods: measured the ΔHR MESA (Multi-Ethnic Study Atherosclerosis) (N = 1,395) SHHS (Sleep Heart Health Study) 4,575). data were used determine functional form association between...
How race, ethnicity, and ancestry are used in genomic research has wide-ranging implications for how is translated into clinical care incorporated public understanding. Correlation between race genetic contributes to unresolved complexity the scientific community, as illustrated by heterogeneous definitions applications of these variables. Here, we offer commentary recommendations on use across arc research, including data harmonization, analysis, reporting. While informed our experiences...
Abstract Most genome-wide association studies (GWAS) of major depression (MD) have been conducted in samples European ancestry. Here we report a multi-ancestry GWAS MD, adding data from 21 cohorts with 88,316 MD cases and 902,757 controls to previously reported data. This analysis used range measures define included African (36% effective sample size), East Asian (26%) South (6%) ancestry Hispanic/Latin American participants (32%). The identified 53 significantly associated novel loci. For...
Mitochondria (MT), the major site of cellular energy production, are under dual genetic control by 37 mitochondrial DNA (mtDNA) genes and numerous nuclear (MT-nDNA). In CHARGEmtDNA+ Consortium, we studied associations mtDNA MT-nDNA with body mass index (BMI), waist-hip-ratio (WHR), glucose, insulin, HOMA-B, HOMA-IR, HbA1c. This 45-cohort collaboration comprised 70,775 (insulin) to 170,202 (BMI) pan-ancestry individuals. Validation imputation variants was followed single-variant gene-based...
Hypertension is a leading cause of global disease, mortality, and disability. While individuals African descent suffer disproportionate burden hypertension its complications, they have been underrepresented in genetic studies. To identify novel susceptibility loci for blood pressure people ancestry, we performed both single multiple-trait genome-wide association analyses. We analyzed 21 studies comprised 31,968 validated our results with additional 54,395 from multi-ethnic These analyses...
Obstructive sleep apnea is a common disorder associated with increased risk for cardiovascular disease, diabetes, and premature mortality. Although there strong clinical epidemiologic evidence supporting the importance of genetic factors in influencing obstructive apnea, its basis still largely unknown. Prior studies focused on traits defined using apnea-hypopnea index, which contains limited information potentially important genetically determined physiologic factors, such as propensity...
Background Genome-wide association studies (GWAS) have made little progress in identifying variants linked to depression. We hypothesized that examining depressive symptoms and considering gene–environment interaction (GxE) might improve efficiency for gene discovery. therefore conducted a GWAS genome-wide by environment study (GWEIS) of symptoms. Methods Using data from the SHARe cohort Women's Health Initiative, comprising African Americans (n = 7,179) Hispanics/Latinas 3,138), we examined...
The bases for sex disparities in obstructive sleep apnea (OSA), is poorly understood. We quantified the influences of event definitions, sleep-state, and body position on apnea-hypopnea indices (AHIs) men women, evaluated differences pathophysiological endotypes.Polysomnography (PSG) data were analyzed from 2057 participants multi-ethnic study atherosclerosis. Alternative AHIs compared using various desaturation arousal criteria. Endotypes (loop gain, airway collapsibility, threshold)...