RNA sequencing has emerged as a powerful supplement to DNA sequencing for Mendelian disease diagnosis, but clinical translation of diagnostic RNA-seq has not been widely achieved. Researchers at ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

We validated a clinical bait-capture WTS assay using 78 solid tumor samples across diverse tissue types, including 59 with known fusions or oncogenic splice variants. Sensitivity was assessed against ...