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 ...

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 ...

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 ...

The study of abiotic stress responses in non-model plants represents a rapidly emerging field that is vital to expanding the diversity and resilience of ...

There is no single genetic blueprint for cancer. Instead, each individual cancer draws on a collection of acquired mutations that endow the cells with a selective advantage and superior immune evasion ...