Nanopore full-length transcriptome sequencing is an innovative technique that utilizes Oxford Nanopore Technologies' (ONT) sequencing platform to obtain comprehensive and uninterrupted high-quality ...

The central dogma of gene expression states that information flows in a single direction, from the inherited genetic code (DNA) to functional proteins via ribonucleic acid (RNA) intermediaries. 4, 5 ...

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 ...

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 ...