Yao Zhou

A genomic foundation model for interpreting human genetic diversity

The paper introduces hEVO, a genomic foundation model trained on human haplotype sequences, achieving top performance in variant interpretation and functional annotation across multiple benchmarks.

Single-cell multiomic QTL mapping reveals state-dependent genetic regulation and associated gene during cellular senescence

The paper uses single-cell multiome data to identify QTLs regulating gene expression and chromatin accessibility during cellular senescence, revealing new causal variants and regulatory mechanisms.

Unraveling the causal genes and transcriptomic determinants of human telomere length

This study identifies causal genes and transcriptomic factors influencing human telomere length using placental tissue data and GWAS.

Inferring CTCF binding patterns and anchored loops across human tissues and cell types

The paper develops DeepAnchor, a deep learning model to characterize CTCF binding patterns and predict CTCF-anchored loops across human tissues, revealing sequence and chromatin features that influence loop formation and disease mechanisms.

Endogenous fine-mapping of functional regulatory elements in complex genetic loci

The paper identifies causal regulatory elements in complex genetic loci using CRISPR perturbations and shows that many causal variants lack classical epigenetic markers.

Coagulation factors and COVID-19 severity: Mendelian randomization analyses and supporting evidence

This paper uses Mendelian randomization to identify causal links between coagulation factors and COVID-19 severity, finding VWF and ADAMTS13 as significant factors.

Whole genome base-wise aggregation and functional prediction for human non-coding regulatory variants

This paper develops regBase, a database of whole genome base-wise aggregations of regulatory variant predictions, and three composite models to score functional, pathogenic, and cancer driver variants, showing superior performance in fine-mapping causal variants.