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 ...

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 ...

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 ...

Researchers built an open tool to handle complex genome sequencing data, offering automated quality control, improved variant ...

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 ...