The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

SpliceAI is an open-source deep learning splicing prediction algorithm that has
demonstrated in the past few years its high ability to predict splicing defects caused by DNA …

Immune checkpoint inhibitors (ICIs) have yielded remarkable responses but often lead to
immune-related adverse events (irAEs). Although germline causes for irAEs have been …

Gene regulation is a central topic in cell biology. Advances in omics technologies and the
accumulation of omics data have provided better opportunities for gene regulation studies …

The exponential growth of big data in RNA biology (RB) has led to the development of deep
learning (DL) models that have driven crucial discoveries. As constantly evidenced by DL …

Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …

The transition from analog to digital technologies in clinical laboratory genomics is ushering
in an era of “big data” in ways that will exceed human capacity to rapidly and reproducibly …

RNA functions by interacting with its intended targets structurally. However, due to the
dynamic nature of RNA molecules, RNA structures are difficult to determine experimentally …

Alternative splicing contributes to adaptation and divergence in many species. However, it
has not been possible to directly compare splicing between modern and archaic hominins …

The capacity of machine-learning methods to handle large and complex datasets makes
them suitable for applications in precision medicine. Current methods automate data …