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 ...

Precision oncology is shifting toward comprehensive transcriptome profiling to reveal fusions, splice variants, and expression changes that DNA panels miss. Yet obtaining reliable data from degraded ...

November 20, 2024 – Genome Research (https://genome.org) publishes a special issue highlighting advances in long-read sequencing applications in biology and medicine. In this first of two Special ...