Lijie Song

Unlocking the biosynthetic potential of Paenibacilli through a genus-wide exploration of gene clusters for secondary metabolite production

This study identifies 3,273 biosynthetic gene clusters in 284 Paenibacillus genomes, revealing extensive unknown clusters and clade-specific biosynthetic patterns.

Expanding the genome information on Bacillales for biosynthetic gene cluster discovery

This study presents 121 new Bacillales genomes, identifies 1,176 biosynthetic gene clusters, and provides open-access data to enhance research on secondary metabolite production.

Whole genome and transcriptome sequencing in neuromuscular disorders: a diagnostic and health economic analysis

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.

Systematic evaluation of the two main blood-based RNA-seq approaches for Mendelian disease diagnosis

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.

Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

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%.

Performance characterization of PCR-free whole genome sequencing for clinical diagnosis

This study evaluates PCR-free whole genome sequencing for clinical diagnosis, showing improved sensitivity and PPV for variant detection compared to PCR-based methods.