Kristin Tsuo

This paper constructs phenome-derived polygenic scores and evaluates how they, along with social determinants of health, influence disease risk across different populations and diseases.

This study functionally characterizes 221,412 trait-associated variants using MPRA in 5 cell types, identifying 12,025 regulatory variants and revealing widespread epistasis and non-TF mechanisms.

This paper improves genetic discovery and polygenic risk prediction for respiratory diseases by analyzing multiple traits and ancestries, identifying novel loci and developing a new polygenic risk score method.

This study conducts the first comprehensive genetic analysis of alcohol use disorder in a Nepalese population, identifying a novel genome-wide significant locus and highlighting the need for replication and improved polygenic prediction.

The paper improves polygenic prediction accuracy by using diverse datasets, showing greater benefits for underrepresented populations.

Admix-kit provides tools for genetic analysis of admixed populations, enabling simulation, association testing, and polygenic scoring.

Meta-analyzing per-ancestry GWAS of 7,266 UK Biobank traits across six genetic ancestry groups adds 14,676 loci missed by European-only analysis, including ancestry-enriched CAMK2D and G6PD signals.

This study shows that polygenic risk scores from multi-ancestry GWAS perform better in understudied populations than single-ancestry scores, except when the understudied group is small.

Blood whole genomes from 274,832 people yield 92 independent nuclear signals for mtDNA copy number and 42 for inherited heteroplasmy levels, implicating mtDNA replication machinery.

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

This study identifies 565 genetic loci associated with sitting height ratio (SHR) in two populations, finding distinct genetic signals from height and highlighting ancestry-specific effects.

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

This study identifies factors influencing DNA methylation variation in human blood, showing that cytomegalovirus infection and aging drive methylation changes, with cellular composition and DNA sequence as key predictors.

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

This study conducts a multi-ancestry GWAS for venous thromboembolism, identifies novel loci, and validates their function in zebrafish.