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 ...

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 ...

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 ...

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 ...

Caris Life Sciences® (NASDAQ: CAI), a leading patient-centric, next-generation AI TechBio company and precision medicine ...

Illumina has unveiled a new spatial technology that is designed to unlock further sequencing capabilities for researchers. Due for release in 2026, the US company’s technology for whole-transcriptome ...