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 …

The same mutation can have different effects in different individuals. One important reason
for this is that the outcome of a mutation can depend on the genetic context in which it …

The prediction of molecular phenotypes from DNA sequences remains a longstanding
challenge in genomics, often driven by limited annotated data and the inability to transfer …

Scalable sequence–function studies have enabled the systematic analysis and cataloging of
hundreds of thousands of coding and noncoding genetic variants in the human genome …

Mutations which affect splicing are significant contributors to rare disease, but are frequently
overlooked by diagnostic sequencing pipelines. Greater ascertainment of pathogenic …

Phase-separated membraneless bodies play important roles in nucleic acid biology. While
current models for the roles of phase separation largely focus on the compartmentalization …

Since the discovery of RNA splicing and its role in gene expression, researchers have
sought a set of rules, an algorithm or a computational model that could predict the splice …

Despite a wealth of molecular knowledge, quantitative laws for accurate prediction of
biological phenomena remain rare. Alternative pre-mRNA splicing is an important regulated …

Abstract RNA G-quadruplexes (RG4s) are four-stranded structures known to control mRNA
translation of cancer relevant genes. RG4 formation is pervasive in vitro but not in cellulo …

Unveiling how genetic variations lead to phenotypic variations is one of the key questions in
evolutionary biology, genetics, and biomedical research. Deep mutational scanning (DMS) …