Wei Zhou

Single-cell eQTL mapping in 5.4 million PBMCs from 1,925 individuals with matched WGS finds common-variant eQTLs for 83% and rare-variant signals for 47% of 21,404 genes.

The paper introduces CASTIE, a method for context-dependent eQTL mapping in single-cell data, identifying regulatory variants missed by static models and linking them to disease traits.

sc-pcQTL identifies multi-gene QTLs in single-cell RNA-seq data by combining hurdle modeling and principal-component analysis, revealing cell-type-specific regulatory effects.

The paper maps context-dependent genetic regulation of cardiometabolic loci in human adipocytes using a multi-donor cell village system and single-nucleus multiome sequencing under various metabolic stress conditions.

This paper introduces RareEffect, a method for estimating rare variant effects and improving polygenic risk prediction using UK Biobank whole exome sequencing data.

FELIX improves genetic association analysis by accounting for local ancestry in admixed populations, increasing significant loci and improving polygenic score prediction.

The paper introduces Tractor-Mix, a mixed model method for GWAS in admixed cohorts with high relatedness, improving ancestry-specific association detection and controlling false positives.

Tractor-Burden improves gene discovery in admixed populations by incorporating local ancestry in rare variant burden testing, identifying additional genes and pathways for type 2 diabetes.

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

The paper performs large-scale GWAS and RVAS on 392,030 whole genomes from All of Us, identifying 49,863 associations and 193 novel pLoF gene-phenotype links through meta-analysis with UK Biobank.

The paper uses population-scale single-nucleus ATAC-seq and RNA-seq to identify regulatory variants and their disease associations in immune cells.

The paper maps chromatin accessibility and genetic variation in immune cells, showing how integrating cell-type-specific data improves disease risk understanding.

This paper identifies SORCS3 as a novel genetic locus associated with panic disorder through a genome-wide association study in the FinnGen study and validates it in independent samples.

The paper investigates the mechanism of age-related mtDNA mutation accumulation in human blood using whole genome sequences, revealing a two-step process involving cryptic mutations and clonal expansion.

The paper introduces scGeneHE, a method to estimate cis-heritability from scRNA-seq data, reducing false positives in eGene detection.

Meta-SAIGE improves rare variant meta-analysis by controlling type I error and enhancing computational efficiency, identifying 237 associations across 83 disease phenotypes.

Population-stratified GWAS of 2,068 traits in 635,969 Million Veteran Program participants, 29% genetically non-European, yields 98,485 associations and 57,601 fine-mapped signals with largely shared cross-population architecture.

The paper identifies compound heterozygous variants in UK Biobank data and shows their phenotypic impact on common diseases using statistical phasing and mixed models.

This paper optimizes the SAIGE algorithm using GPUs to accelerate GWAS on large datasets, achieving 20x speedup on the Million Veteran Program data.

SAIGE-QTL is a tool for single-cell eQTL analysis that directly maps eQTLs without pseudobulk aggregation and improves power for detecting rare variants.

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 identifies ancestry-specific and sex-specific genetic loci for primary open-angle glaucoma through a meta-analysis of 15 biobanks, highlighting shared biology with vascular mechanisms and cell proliferation.

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 evaluates dominance effects in over 1,000 UK Biobank phenotypes using GWAS, finding no significant dominance contribution to phenotypic variance from common variation.

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 study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal 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 135 genomic loci associated with venous thromboembolism risk through cross-ancestry GWAS and provides insights into biological pathways and potential therapeutic targets.