Different variants of a gene, known as isoforms, can be transcribed and translated at varying levels within a cell or tissue. These isoforms are commonly a result of alternative splicing, which ...

This article and associated images are based on a poster originally authored by Marisa Amato and presented at ELRIG Drug Discovery 2025 in affiliation with Singleron Biotechnologies GmbH. This poster ...

For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for ...

New RNA-Seq innovations include a regional sequencing hub and an RNA preservation solution enabling ambient shipping. These advances reduce costs, improve turnaround times, and simplify workflows for ...

Two new technologies—an AI diagnostic system called DeepRare and a targeted long-read RNA sequencing platform named STRIPE—are showing promise in diagnosing rare diseases that evade standard tests.

A comprehensive review article titled “Bioinformatics perspectives on transcriptomics: A comprehensive review of bulk and single-cell RNA sequencing analyses,” published in Quantitative Biology, ...

Researchers developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare diseases. The study team demonstrated that this ...

Researchers developed STRIPE, a targeted long-read RNA sequencing tool that identifies disease-causing variants missed by ...

Single-cell RNA sequencing is giving researchers a clearer view of why some CAR-T cells persist, expand, kill tumors ...

(spidroins) through long-read transcriptomics across a broad phylogenetic range, with theoretical implications for protein family evolution, biomaterials, and silk biology. By identifying putative ...