Lei Zhang

Efficient identification of trait-associated loss-of-function variants in the UK Biobank cohort by exome-sequencing based genotype imputation

This study uses exome-sequencing data to impute genotypes in the UK Biobank cohort, enabling replication of associations for rare loss-of-function variants with traits like BMD and lipid levels.

Single-cell whole-genome sequencing reveals mutational landscapes of DNA mismatch repair deficiency in mouse primary fibroblasts

This study uses single-cell whole-genome sequencing to analyze mutational landscapes in Msh2-deficient mouse fibroblasts, revealing elevated SNVs and INDELs with distinct mutational signatures.

Genome-wide association study of appendicular lean mass in UK Biobank cohort

This study conducts a large-scale GWAS of appendicular lean mass in UK Biobank, identifying 717 variants from 561 loci that explain ~11% phenotypic variance and are enriched in musculoskeletal-related gene sets.