Stella W. Aslibekyan

The paper analyzes the impact of CYP2C19 genotype on SSRI side effects and discontinuation rates in a large sample of individuals.

This study investigates the association between mosaic loss of Y chromosome (mLOY) and lung function, emphysema, and epigenetic aging in men across multiple cohorts.

cellSTAAR integrates single-cell ATAC-seq with whole-genome sequencing to enhance power and interpretation of rare variant association tests in non-coding regions.

This study finds that higher polygenic risk scores for breast cancer are associated with longer survival in patients, suggesting a link between genetic predisposition and less aggressive tumors.

This study uses a multivariate GWAS approach to identify genetic loci associated with reading ability and dyslexia, finding 35 new genome-wide significant loci and estimating SNP heritability at 24%.

This study compares polygenic risk scores for Parkinson's disease across seven ancestries, finding varying predictive accuracy and highlighting the need for ancestry-specific models.

The paper introduces MultiSTAAR, a statistical framework for multi-trait rare variant analysis in WGS studies, identifying new lipid trait associations in diverse populations.

This study identifies genetic correlations between hyposmia and Parkinson's disease, finding a strong causal link from PD to hyposmia but weaker evidence for the reverse.

This study investigates the shared genetic architecture between rhythm and dyslexia using large-scale genome-wide association studies.

This study performs a multi-ancestry GWAS of Long COVID, identifying immune-related loci and genetic links to chronic fatigue syndrome, fibromyalgia, and depression.

This study performs a multi-ancestry GWAS of diarrhea during acute SARS-CoV2 infection, identifying six novel loci and contrasting genetic roles of IBS subtypes in COVID-19 diarrhea.

MUSSEL improves polygenic risk prediction across populations by integrating GWAS summary statistics and using Bayesian hierarchical modeling with ensemble learning.

This study conducts a trans-ancestral GWAS of sporadic and recurrent miscarriage, identifying novel genetic associations and providing causal evidence for smoking and caffeine consumption.

This paper conducts a multi-ancestry genome-wide meta-analysis of Parkinson's disease, identifying 78 independent loci and 23 genes associated with PD risk.

This paper uses a polygenic risk score to identify undiagnosed diabetes cases, finding that combining BMI and PRS captures most undiagnosed cases, including those with normal weight.

The paper estimates polygenic risk scores (PRS) for 12 diseases in a diverse cohort and finds higher disease incidence and earlier clinical manifestation in top PRS individuals.

The paper introduces CT-SLEB, a method for multi-ancestry polygenic prediction that improves performance in non-European populations using GWAS summary statistics and simulation studies.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

The paper identifies a gene-diet interaction modifying the association between macronutrient intake and glycemic traits, highlighting challenges in detecting such interactions due to measurement error and sample size.

This study identifies 49 genetic loci associated with sleep apnoea risk using multi-trait GWAS, with 29 replicated in a large cohort, and finds genetic correlations with several complex traits.

The paper introduces a framework for detecting noncoding rare variant associations using whole-genome sequencing data, applying it to lipid traits in the TOPMed program.

The paper performs whole genome sequence analysis of plasma lipid levels in 66,329 individuals, identifying new lipid-associated alleles, including rare non-coding variants.

The paper performs whole genome sequence association analysis of fasting glucose and insulin levels in diverse cohorts, identifying 22 significant variants across 16 gene regions, including rare variants.

This study conducts a genome-wide association study to identify genetic variants linked to musical beat synchronization, finding high polygenicity with 69 significant loci and heritability estimates of 13%-16%.

The paper estimates heritability for height and BMI using whole-genome sequence data and finds that rare variants contribute significantly to the missing heritability.

The paper identifies a genetic association between the UGT2A1/UGT2A2 locus and COVID-19-related anosmia using a trans-ethnic GWAS.

This study identifies 35 genes associated with circulating lipid levels using rare coding variants from 170,000 exomes across multiple ancestries.

The paper reports whole-genome association analyses of sleep-disordered breathing traits in the NHLBI TOPMed program, identifying rare and common variant associations.

The paper uses whole genome sequencing to identify genetic loci associated with platelet aggregation, including novel variants in RGS18, SVEP1, and PEAR1.

The paper identifies novel genetic determinants of lipidome variation in a founder population, highlighting rare alleles associated with specific lipid species and replicating known common loci.