Zhonghua Wang

This paper evaluates the clinical and cost-effectiveness of combining whole-genome and RNA sequencing for diagnosing neuromuscular disorders in patients with negative whole-exome results.

This study evaluates two RNA-seq methods for Mendelian disease diagnosis using blood samples, finding polyA-selection outperforms rRNA depletion in detecting disease-related genes and variants.

PSEA prioritizes candidate genes for mendelian disease diagnosis by improving phenotypic similarity evaluation using HPO terms and showing better performance than existing methods.

This study evaluates the sensitivity and coverage of clinical whole-genome sequencing (WGS) for detecting genetic variants, finding that 40X mean depth achieves high sensitivity for SNVs and indels but not 100%.

A metabolomics-transcriptomics study comparing artificial and wild Artemisia rupestris L. to identify molecular differences and their genetic basis.

The paper introduces a high-throughput genome assembly method that improves accuracy and efficiency for complex genomes, achieving 92.7% coverage of a wheat chromosome with 98% correct BAC sequences.