Sen Zhao

The paper introduces CANCAN, a computational framework for analyzing copy number and mutation heterogeneity in DNA sequencing data, showing high concordance with existing methods and improved performance on targeted sequencing data.

This study evaluates ultra-high-depth RNA-seq for Mendelian disorder diagnostics, showing improved detection of low-abundance transcripts and splicing variants, and introduces a resource to guide sequencing depth selection.

This study identifies EPHA4 signaling dysregulation as a contributor to idiopathic scoliosis by linking it to locomotion defects and CPG network disruption in zebrafish.

This study validates a clinical RNA-seq test for diagnosing Mendelian disorders using 150 samples, achieving over 99% sensitivity and specificity.

The paper identifies a novel SOX9 variant in the TAM domain linked to axial skeletal dysplasia and scoliosis, showing reduced protein stability and recapitulating human phenotypes in mice.

The paper identifies a novel 21q22.11 locus associated with COVID-19 susceptibility through GWAS and integrates eQTL data to show gene expression effects in lung tissue.

This study compares three germline variant calling pipelines for WGS data, finding DRAGEN and DeepVariant offer better accuracy with no significant difference in F1-score, while DRAGEN provides higher efficiency.

ScaR detects known fusion transcripts with high sensitivity in testicular germ cell tumors, identifying RCC1-ABHD12B and CLEC6A-CLEC4D in 9% and 28% of samples.

The paper investigates how different FBN1 truncating mutations cause distinct clinical phenotypes in Marfan syndrome and Marfanoid-progeroid-lipodystrophy syndrome through molecular and genetic analysis.