TrASPr+BOS enables accurate prediction and design of tissue-specific RNA splicing, even for tissues not trained on, uncovering unseen regulatory elements and guiding sequence edits that reshape splici...

An Owner's Guide to the Human Genome

ALT: Hugh Grant Trending

Alternative splicing patterns have diverged rapidly during vertebrate evolution. By integrating genome-wide predictions of stable RNA duplexes, alternative splicing profiles, and proximity ligation-de...

Saturation genome editing of RNU4-2 identifies the functional and clinical impact of variants across the entire gene and delineates variants that cause a new recessive neurodevelopmental disorder distinct from ReNU syndrome.

Transcriptional adaptation (TA) is a genetic robustness mechanism through which mutant messenger RNA (mRNA) decay induces sequence-dependent up-regulation of so-called adapting genes. How cytoplasmica...

This repository contains fine mapped eQTL and sQTL summary statistics from the INTERVAL RNA-seq study (Tokolyi et al, 2025). Datasets QTD001000-QTD001002 are based on the whole cohort of 4,729 samples...

It has been a long time since I wrote a non strictly scientific blog post. The holiday time, often a time of reflection and new resolutions, seems good for getting back to that. But don’t worry, there will be connections to science work as well… 😉 Today’s blog is about uncertainty - in our science, in our lives, in the world.

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A quiet policy change means the government is making fewer bets on long-term science.

In my previous post, I described how, in our recent sQTL preprint, we broke current sQTL pipelines into their basic elements. This led to identifying potential issues/areas we may be able to improv…

Current methods for detecting splicing quantitative trait loci (sQTLs) miss many disease-associated genetic variants. MAJIQTL introduces improved statistical modeling and comprehensive splicing repres...

Background The 3’ untranslated regions (3’UTRs) of mRNAs play a critical role in controlling gene expression and function because they contain binding sites for microRNAs and RNA binding proteins (RBP...

RNA G-quadruplexes (rG4s) are structures formed in guanine-rich regions of RNA that can serve as crucial regulatory elements in gene expression. Here the authors present an RNA language model for tran...

Peer review is widely viewed as a critical aspect of biomedical communication. Ideally, it provides authors with feedback so they can improve manuscripts and gives readers, particularly nonspecialists...

Scientists can choose between multiple human genome references, and a pangenome reference is coming. Deciding what to use when is not quite straightforward.