Barbara E. Stranger

Sex differences in the genetic architecture of clinical quantitative traits in the electronic health record

The paper identifies sex-specific genetic loci for clinical traits using EHR data, finding that differential effect magnitudes, not opposing effects, dominate sex-specific genetic architecture.

GXwasR: A Toolkit for Investigating Sex-Differentiated Genetic Effects on Complex Traits

GXwasR provides tools for sex-aware genetic analysis in GWAS and XWAS, enabling sex-differentiated effects and polygenic risk scores.

A network model for patient-derived drug response in breast cancer integrating multi-omics datasets.

PDDRNet-MH predicts personalized drug responses in breast cancer by integrating multi-omics data and drug information, achieving high accuracy for several FDA-approved drugs.

Uncovering hidden gene-trait patterns through biclustering analysis of the UK Biobank

The paper applies biclustering to GWAS data from the UK Biobank to uncover local gene-trait associations that traditional methods miss.

A Deep Transcriptome Meta-Analysis Reveals Sex-based Molecular Differences in Multiple Sclerosis

This study identifies sex-based molecular differences in multiple sclerosis through transcriptomic meta-analysis, revealing tissue-specific gene expression patterns and functional immune pathway alterations.

Systematic evaluation of transcriptomics-based deconvolution methods and references using thousands of clinical samples

This study evaluates ten deconvolution tools on 4,000 clinical and synthetic samples, finding EPIC performs best on Framingham data and HPCA references are generally accurate.

Examining sex-differentiated genetic effects across neuropsychiatric and behavioral traits

The paper examines sex-differentiated genetic effects across neuropsychiatric and behavioral traits using GWAS summary statistics and finds small, polygenic sex differences with enriched neuron-related genes.

Mendelian randomization identifies folliculin expression as a mediator of diabetic retinopathy.

The paper identifies folliculin (FLCN) as a mediator of diabetic retinopathy through genetic association and gene expression analysis.

The Evolutionary History of Common Genetic Variants Influencing Human Cortical Surface Area

This study identifies genetic variants influencing human cortical surface area by integrating evolutionary annotations with neuroimaging genetic data, revealing recent polygenic selection on brain regions involved in language and vision.

A vast resource of allelic expression data spanning human tissues

The paper presents a large ASE resource from GTEx v8 with 431 million SNP-level and 153 million haplotype-level measurements, and extends phASER to estimate cis regulatory variant effect sizes.

Cell type specific genetic regulation of gene expression across human tissues

The paper uses bulk RNA-seq data to estimate cell type abundances and identifies cell type interaction QTLs that provide finer resolution of tissue specificity than bulk cis-eQTLs.

Determinants of telomere length across human tissues

The paper examines telomere length variation across 6,391 tissue samples from 952 individuals, showing tissue-specific differences, positive correlations between tissues, and associations with age and ancestry.

A Quantitative Proteome Map of the Human Body

The paper quantifies protein levels across 32 human tissues and compares them to transcriptome data, revealing insights into post-transcriptional regulation and disease mechanisms.

The GTEx Consortium atlas of genetic regulatory effects across human tissues

GTEx v8 maps expression and splicing QTLs in 49 tissues from 838 donors: cis-eQTLs cover 94.7% of protein-coding genes, and cross-tissue QTL sharing mirrors cell-type composition.

Sex differences in gene expression in response to ischemia in the human myocardium

The paper identifies sex-specific gene expression changes in human myocardial tissue after ischemia, highlighting differences in pathways and cell-type proportions between males and females.

Genetic analysis of isoform usage in the human anti-viral response reveals influenza-specific regulation of ERAP2 transcripts under balancing selection

The paper identifies genetic variants influencing isoform usage in the anti-viral response, revealing ERAP2's role in balancing selection and influenza-specific regulation.

Sex differences in the genetic architecture of obsessive-compulsive disorder

This study investigates sex differences in the genetic architecture of OCD using large-scale genomic data and finds evidence for sex-specific regulatory variant enrichment without genome-wide associations.

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.

Polygenic selection underlies evolution of human brain structure and behavioral traits

The paper investigates selection mechanisms underlying human brain structure and behavioral traits, finding evidence for ancient and recent polygenic adaptation but not classical selective sweeps.