Ulrike Peters

Single-cell transcriptome-wide association analysis reveals epithelial cell-specific genetic susceptibility to colorectal cancer

The paper performs single-cell transcriptome-wide association analysis to identify cell-type-specific genetic susceptibility genes for colorectal cancer, finding 546 gene-cell-type associations and 347 candidate susceptibility genes.

Deconvolution-based cell-type specific DNA methylation-wide and transcriptome-wide association studies identify risk CpG sites and genes associated with colorectal cancer risk

The paper uses deconvolution to identify cell-type-specific DNA methylation and gene expression associations with colorectal cancer risk, finding 178 CpG sites and 68 genes across 26 new loci.

An Efficient Lasso Framework for Admixture-Aware Polygenic Scores

HAUDI improves polygenic score construction for admixed populations by efficiently extending the GAUDI method to multi-way admixture with faster computation and better performance.

Novel Genetic Risk Loci for Pancreatic Ductal Adenocarcinoma Identified in a Genome-wide Study of African Ancestry Individuals

This study identifies novel genetic risk loci for pancreatic ductal adenocarcinoma in African ancestry individuals through admixture mapping and GWAS.

Local ancestry modulates gene expression: shifting our understanding of genetic regulation and disease association within and across populations

The paper identifies ancestry-specific eQTL effects in Hispanic/Latino and African American populations, showing how local ancestry influences gene expression and disease risk.

Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention

This study integrates large-scale omics and electronic health records to identify risk proteins and drugs for cancer prevention, finding 101 novel proteins and three drugs associated with reduced colorectal cancer risk.

Genome-wide association study provides novel insight into the genetic architecture of severe obesity.

This study identifies novel genetic signals associated with severe obesity through GWAS and shows strong genetic overlap with BMI, highlighting shared comorbidities and lifestyle interactions.

ROSIE: AI generation of multiplex immunofluorescence staining from histopathology images

ROSIE generates multiplex immunofluorescence staining from H&E images by imputing protein expression and localization using deep learning.

Mixed-effects polygenic risk score Phenome-wide association study detects genetic correlation between colorectal cancer risk and phenotype data extracted from the electronic health record

The paper uses a polygenic risk score for colorectal cancer in a PheWAS to find genetic correlations with other phenotypes from electronic health records.

Type 2 diabetes polygenic risk score demonstrates context-dependent effects and associations with type 2 diabetes-related risk factors and complications across diverse populations

Pathway Polygenic Risk Scores (pPRS) for the Analysis of Gene-environment Interaction

The paper introduces pathway-based polygenic risk scores (pPRS) to detect gene-environment interactions, finding a significant interaction between NSAIDs and the TGF-β/GRHR pathway in colorectal cancer.

Large-scale alternative polyadenylation (APA)-wide association studies to identify putative susceptibility genes in human common cancers

The paper identifies 58 risk genes associated with common cancers by linking genetically predicted APA levels to cancer risk using GWAS data.

Comparing ancestry calibration approaches for a trans-ancestry colorectal cancer polygenic risk score

The paper compares ancestry calibration methods for a colorectal cancer polygenic risk score using All of Us data, finding that using admixture and diverse training sets improves normality and tail accuracy.

Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium

The paper analyzes inflammation biomarkers using whole-genome sequencing from the TOPMed consortium, identifying both single-variant and rare variant associations with inflammatory traits.

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

Oncogenic reactivation of young L1s is a hallmark of colon cancer

The paper identifies oncogenic reactivation of young L1 transposable elements in colon cancer, showing PLZF loss drives this activity independently of cell division.

Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-specific effects via GAUDI

GAUDI improves polygenic risk prediction in admixed populations by modeling ancestry-specific and shared effects, outperforming existing methods in simulations and real data.

Causal effects on complex traits are similar across segments of different continental ancestries within admixed individuals

The paper quantifies similarity in causal effects across local ancestries in admixed individuals and finds high genetic correlation (radmix=0.95) within individuals.

Trans-ancestry meta-analysis improves performance of genetic scores for multiple adiposity-related traits in East Asian populations

This paper improves genetic scores for adiposity traits in East Asian populations by using trans-ancestry meta-analysis, increasing variance explained compared to European-derived scores.

Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries

The paper identifies 1,000 gene-level associations and conserved pathway associations for 25 traits across seven ancestries using enrichment analyses on large-scale GWA data.

Recovery of trait heritability from whole genome sequence data

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

Assessment of Polygenic Architecture and Risk Prediction based on Common Variants Across Fourteen Cancers

This study assesses polygenicity and risk prediction using common variants across 14 cancers, finding varying numbers of susceptibility variants and risk score effectiveness.

Physical activity and risks of breast and colorectal cancer: A Mendelian randomization analysis

This study uses Mendelian randomization to show that higher physical activity levels are associated with lower risks of breast and colorectal cancer.

The PAGE Study: How Genetic Diversity Improves Our Understanding of the Architecture of Complex Traits

The paper conducts a GWAS in non-European populations, identifies new genetic loci, and highlights the importance of diverse cohorts for understanding complex traits.

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

Genetic Identification Of A Common Collagen Disease In Puerto Ricans Via Identity-By-Descent Mapping In A Health System

The paper identifies a common collagen disease in Puerto Ricans using identity-by-descent mapping and genomic data from a health system.