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 …

High-throughput sequencing-based methods and their applications in the study of
transcriptomes have revolutionized our understanding of alternative splicing. Networks of …

Genomics is advancing towards data-driven science. Through the advent of high-throughput
data generating technologies in human genomics, we are overwhelmed with the heap of …

Predicting the effects of genetic variants on splicing is highly relevant for human genetics.
We describe the framework MMSplice (modular modeling of splicing) with which we built the …

We review the current applications of artificial intelligence (AI) in functional genomics. The
recent explosion of AI follows the remarkable achievements made possible by “deep …

Although convolutional neural networks (CNNs) have been applied to a variety of
computational genomics problems, there remains a large gap in our understanding of how …

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 …

In Eukarya, immature mRNA transcripts (pre-mRNA) often contain coding sequences, or
exons, interleaved by non-coding sequences, or introns. Introns are removed upon splicing …

Defects in pre-mRNA splicing are frequently a cause of Mendelian disease. Despite the
advent of next-generation sequencing, allowing a deeper insight into a patient's variant …

Gene expression is directly controlled by transcription factors (TFs) in a complex
combination manner. It remains a challenging task to systematically infer how the …