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 ...

Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model–Based Prediction An economic model was developed to estimate the ...

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 ...

This is a preview. Log in through your library . Abstract The molecular mechanism of plant polyploid stress resistance has been a hot topic in biological research. In this study, Populus diploids and ...

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 ...

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 ...