Identifying noncoding loss-of-function DNA variants is a major bottleneck of whole genome interpretation, as predicting function outside coding regions is difficult 1. Variants altering splicing ...

Even for essential splice-site variants that are almost guaranteed to alter mRNA splicing, no current method can reliably predict whether exon-skipping, cryptic activation or multiple events will ...

This article was review by Thomas Cooper, MD from Baylor College of Medicine. Stay up to date on the latest science with Brush Up Summaries. Despite its significance, alternative splicing’s global ...

Human genes that encode proteins often contain non-coding segments known as introns. Removing introns is crucial for the proper expression of genetic information. Understanding how our cells ...

Alternative splicing, a clever way a cell generates many different variations of messenger RNAs -- single-stranded RNAs involved in protein synthesis -- and proteins from the same stretch of DNA, ...

The nucleus of each of your cells contains all the genetic information (the genome) necessary to build every type of cell and protein in your entire body. Like a complex library in a tiny space 50 ...

The modulation of RNA splicing by small molecules has emerged as a promising strategy for treating pathogenic infections, human genetic diseases, and cancer; however, the principles by which splicing ...

In a new study, Chinese researchers have discovered the previously unrecognized role of alternative splicing of the DOC2A gene in schizophrenia. The research was conducted by scientists led by LI Ming ...

RNA splicing, in which different coding RNA, or exons, are joined together after noncoding regions, or introns, are removed, allows for a large array of RNA transcript isoforms with distinct sequences ...

Natural killer cell transcriptomic expression and prediction of survival after immune checkpoint blockade across cancers. This is an ASCO Meeting Abstract from the 2025 ASCO Annual Meeting I. This ...