Yukun He

The paper introduces a support-based validation framework to correct assembly errors in diploid genomes using independent sequencing evidence.

This study evaluates the impact of population-specific reference genomes on variant calling in WES data from Chinese tumor samples, finding improved accuracy with the YAO reference.

The paper presents T2T-YAO, a telomere-to-telomere diploid reference genome for a Han Chinese male, offering improved haplotype resolution and genetic diversity compared to T2T-CHM13.

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.