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 ...

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 ...