Jie Huang

The paper establishes high-confidence structural variant calls in an Asian individual using long-read sequencing technologies and validates them through PCR and Sanger sequencing.

BDdb is a database integrating multi-omics data, cfDNA data, and biomarkers for birth defects, enabling data exploration and analysis for research and clinical applications.

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

The paper introduces HAST, a tool for haplotype-resolved assembly using trio binning, achieving high accuracy and completeness in haplotype reconstruction from synthetic long reads.

The paper develops a national panel of 31 genomic DNA reference materials for thalassemia genetic testing, validated across multiple laboratories and stable under various conditions.