Junhua Rao

The paper evaluates SV detection performance across DNBSEQ and Illumina platforms using 40 tools, finding consistent results in metrics and genomic characteristics.

This study evaluates CNV detection performance of DNBSEQ and Illumina platforms using WGS data from NA12878, showing DNBSEQ detects more CNVs with similar sensitivity and precision.

The paper constructs a high-confidence Asian variant benchmark using multiple sequencing methods and identifies novel variants in challenging regions.