Ziying Yang

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.

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%.

This study evaluates genome sequencing as a first-line prenatal diagnostic tool, finding it more comprehensive than CMA plus exome sequencing in detecting genetic anomalies and nongenetic factors.

This study identifies a novel TTN mutation causing autosomal dominant atrioventricular block in a Chinese family through whole-exome sequencing and co-segregation analysis.

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.