Wenan Chen

The paper identifies SMARCAL1 as a novel predisposition gene for osteosarcoma by analyzing germline variants in DNA damage repair genes across childhood cancer cases.

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

The paper identifies differences in mtDNA mutation accumulation and selective pressures in pediatric leukemias using bulk and single-cell sequencing, linking these to functional heterogeneity among leukemic cells.

The paper functionally characterizes BRCA2 variants using saturation genome editing and classifies them clinically, finding functionally abnormal variants are associated with increased cancer risk.

CoCoRV prioritizes germline disease-predisposition genes by using public genotype summary counts as controls, effectively identifying cancer-predisposition genes in pediatric cancer cohorts.

This paper introduces PTA, a new WGA method that improves variant calling accuracy in single cells, enabling studies of genetic diversity and CRISPR off-target effects.

LCA identifies subtle cell population diversity in large-scale single-cell RNA-seq data using a dual-space model with spectral clustering and technical variation control.

This study evaluates polygenic risk scores for MDD and neuroticism as predictors of antidepressant response across three cohorts, finding no significant prediction but consistent directional effects.