Bogdan Pasaniuc

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

This study connects schizophrenia GWAS findings to specific genes, tissues, and regulatory mechanisms through transcriptome-wide and chromatin activity analyses.

Colocalization of GWAS and eQTL Signals Detects Target Genes

This paper introduces eCAVIAR, a method to compute colocalization posterior probability between GWAS and eQTL signals to identify target genes and tissues for complex traits.

Improved methods for multi-trait fine mapping of pleiotropic risk loci

This paper introduces fastPAINTOR, a method that improves fine-mapping accuracy at pleiotropic risk loci by integrating functional annotations and multi-trait data, reducing the number of SNPs needed for follow-up.

Dissecting the genetics of complex traits using summary association statistics

This paper reviews statistical methods that use summary association statistics to analyze genetic data from GWAS and gain insights into complex traits and diseases.

Integrating gene expression with summary association statistics to identify susceptibility genes for 30 complex traits

This study integrates gene expression with GWAS summary statistics to identify 1,196 susceptibility genes for 30 complex traits, including new risk loci and causal relationships between traits.

Subtle stratification confounds estimates of heritability from rare variants

This study shows that subtle population stratification can confound heritability estimates from rare variants, even after standard corrections, suggesting the need for better stratification control in genetic studies.

Contrasting the genetic architecture of 30 complex traits from summary association data

This study estimates local heritability from GWAS summary data for 30 traits, finding common SNPs contribute broadly, some traits have concentrated heritability, and some loci explain heritability across multiple traits.

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

This paper introduces LDpred, a method that improves polygenic risk score accuracy by modeling linkage disequilibrium, showing increased R2 values in schizophrenia and multiple sclerosis datasets.

Integrative approaches for large-scale transcriptome-wide association studies

The paper integrates gene expression and GWAS data to identify novel genes associated with obesity-related traits.

The contribution of rare variation to prostate cancer heritability

This study investigates the role of rare genetic variation in prostate cancer heritability using targeted sequencing of GWAS risk regions across multiple ancestries.

Haplotypes of common SNPs can explain missing heritability of complex diseases

The paper shows that haplotypes of common SNPs explain more heritability of complex diseases than individual SNPs alone.

Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders

This paper improves causal variant identification in exome sequencing for monogenic disorders by incorporating ancestry information to reduce false negatives and improve variant filtering.

Spatial localization of recent ancestors for admixed individuals

This paper introduces a method to localize recent ancestors of admixed individuals using genetic data and validates it with empirical and simulated data.

Regulatory variants explain much more heritability than coding variants across 11 common diseases

The paper shows regulatory variants explain significantly more heritability than coding variants for 11 diseases, using imputed data across 218 cell types.