For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for their condition. Exome sequencing came back clean. Chromosomal microarray found ...

The human immune system is finely tuned to detect and destroy viral threats. But this same defense system can misfire. When ...

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...

In the post-genomic era, long non-coding RNAs (lncRNAs) have emerged as critical regulators in various cancers and hold potential as minimally invasive diagnostic biomarkers. This study aimed to ...

Balanced chromosomal abnormalities (BCAs) are structural variations that can underlie a wide spectrum of neurodevelopmental disorders, often remaining undetected by conventional diagnostic approaches.

Short-coupled ventricular fibrillation (SCVF) is increasingly being recognized as a distinct primary electrical disorder and cause of otherwise unexplained cardiac arrest. However, the pathophysiology ...

With GROVER, a new large language model trained on human DNA, researchers could now attempt to decode the complex information hidden in our genome. GROVER treats human DNA as a text, learning its ...

An international research team has succeeded in developing a new version of RNA building blocks with higher chemical reactivity and photosensitivity. This can significantly reduce the production time ...