Jun Sun

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

This study demonstrates a haplotype-based noninvasive prenatal diagnosis for Hemophilia A using cell-free fetal DNA, confirming results with amniocentesis.

This study uses whole exome sequencing to identify genetic causes of short stature in 20 patients, finding molecular diagnoses in 45% with discrepancies between clinical and genetic diagnoses.