Jefferson C. Sinson

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

This study develops scNanoSeq to detect somatic mutations in single tumor cells, revealing subtype-specific evolutionary patterns and a reprogramming and critical mutation co-timing model in breast cancer.

The paper demonstrates that recurrent genomic deletions mediated by nonallelic homologous recombination drive recessive disease burden and identifies new disease-contributing variants through exome reanalysis.