Gosia Trynka

Single-cell multi-ancestry regulatory map of systemic lupus erythematosus

The paper constructs a multi-ancestry single-cell eQTL map for SLE, identifying colocalized eQTLs with GWAS loci and highlighting cell-type-specific regulatory mechanisms.

Genetic dose-response modelling predicts drug mechanisms, dosing, and adverse events

VIDRA models genetic dose-response relationships to predict drug mechanisms, therapeutic potential, and adverse events using phenotypically associated variants.

Gene expression profiling of dendritic cell tolerance dysfunction in women with Systemic lupus erythematosus

The paper identifies transcriptional disruptions in dendritic cells from SLE patients, highlighting interferon-driven changes, impaired IL-10 signaling, and altered lipid metabolism as key factors in tolerance dysfunction.

The Human Pleiotropic Map of GWAS Associations and Therapeutic Implications

This paper analyzes 100,526 GWAS to identify pleiotropic genes and their therapeutic implications, finding that highly pleiotropic genes are associated with safety liabilities and that combining PAV support with intermediate pleiotropy improves therapeutic success.

Federated single-cell QTL meta-analysis reveals novel disease mechanisms

The paper performs a federated cis-eQTL meta-analysis across single-cell datasets to identify cell-type-specific genetic effects and link them to disease mechanisms.

Genome-scale mapping of variant, enhancer and gene function in primary human CD4+ T cells

The paper maps variant, enhancer, and gene function in primary human CD4+ T cells by combining Perturb-seq of regulatory elements and genes, identifying CRE-gene pairs and linking variants to disease-related programs.

Predicting how perturbations reshape cellular trajectories with PerturbGen

PerturbGen predicts how genetic perturbations affect cellular trajectories across time in human datasets, showing effects on immune responses, hematopoiesis, and skin development.

Division state reveals hidden genetic regulation during T cell activation and identifies immune disease-linked gene programmes

The paper uses division-resolved single-cell transcriptomics to study T cell activation and identifies gene programmes linked to immune disease by analyzing variant effects on cell division states.

Multiplexed high-content imaging uncovers morphological diversity of lymphocyte activation and dysfunction

The paper introduces TGlow, a high-content imaging platform for single-cell phenotyping of human lymphocytes, revealing distinct morphological states and drug responses.

Disease-associated variants are enriched for altering cell-type-specific gene co-expression relationships

The paper identifies co-eQTLs that alter gene co-expression relationships in specific cell types, linking these variants to immune disease associations.

Integrated QTL mapping and CRISPR screening in pooled iPSC-derived microglia reveals genetic drivers of neurodegenerative risk

The paper integrates QTL mapping and CRISPR screening in iPSC-derived microglia to identify genetic drivers of neurodegenerative risk by linking variants to phenotypes and gene expression.

ONE-STEP tagging: a versatile method for rapid site-specific integration by simultaneous reagent delivery

ONE-STEP tagging enables rapid, efficient, and scalable protein tagging in diverse cell types through CRISPR-Cas9 and Bxb1 integrase, with high integration efficiency and multiplexing capabilities.

An atlas of protein-protein associations of human tissues prioritizes candidate disease genes

The paper constructs a tissue-specific protein interaction atlas using proteomic data from 11 human tissues, identifying key drivers of inter-tissue variation and prioritizing disease genes in brain disorders.

Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation

The paper maps eQTLs during T cell activation and identifies immune disease risk variants that regulate gene expression dynamics, showing colocalization with disease-associated genes.

Robust temporal map of human in vitro myelopoiesis using single-cell genomics

The paper generates a molecular map of human in vitro myelopoiesis from iPSC to macrophages, revealing conserved regulatory networks and new myeloid progenitors.

Chromatin activity at GWAS loci identifies T cell states driving complex immune diseases

The paper identifies T cell states associated with immune disease variants by analyzing chromatin activity across different activation states.

Immune disease variants modulate gene expression in regulatory CD4+ T cells and inform drug targets

The paper identifies immune disease variants affecting Treg gene expression and highlights potential drug targets by linking GWAS signals with Treg QTLs.

Genomic profiling of T cell activation reveals dependency of memory T cells on CD28 costimulation

Genomic profiling of CD4 T cell activation reveals a sensitivity switch from TCR in naive to CD28 in memory cells.

Association mapping of inflammatory bowel disease loci to single variant resolution

This study fine-maps 94 inflammatory bowel disease loci to identify 45 causal variants with high confidence, providing insights into their functional impacts on disease mechanisms.

Tissue-specific Enrichment of Lymphoma Risk Loci in Regulatory Elements

The paper identifies lymphoma risk SNPs enriched in regulatory elements using a multiscale approach and develops an algorithm to analyze GWAS results.

Partitioning heritability by functional category using GWAS summary statistics

This paper partitions heritability across functional genomic elements using GWAS summary statistics to identify trait-specific enrichments.

Disentangling effects of colocalizing genomic annotations to functionally prioritize non-coding variants within complex trait loci

The paper develops a statistical method to distinguish causal non-coding variants from colocalizing annotations in complex trait loci, identifying independent effects in disease-associated regions.

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.