RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this technology has not yet been determined. In a new study published in the ...

ctDNA test, which is an important aspect in liquid biopsy, offers a non-invasive alternative to tissue biopsies for cancer diagnosis and monitoring. Ultra-deep ctDNA sequencing enabling the detection ...

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 ...