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.

Membership

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

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.

Mapping pairwise nucleotide dependencies by leveraging genomic language models highlights functional genomic elements and predicts deleterious genetic variants more effectively than alignment-based conservation metrics.

RNA-binding proteins (RBPs) are best known as effectors along the entire gene expression pathway and as constituents of RNA-protein machines such as t…

Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...

During organogenesis, precise pre-mRNA splicing is essential to assemble tissue architecture. Many developmentally essential exons bear weak 5'splice sites (5'SS) yet are spliced with high precision, ...

Abstract Submission Click Here to Submit Your Abstract Abstract Submission Deadline: September 1, 2025 Participants are encouraged to submit an abstract for oral or poster presentation. GUIDELINES FOR...

Nature Biotechnology - A deep convolutional neural network model predicts the influence of the full-length mRNA sequence on translation efficiency.

Many of the genetic loci associated with disease are expected to have context-dependent regulatory effects that are underrepresented in the transcriptomes of healthy, steady-state adult tissues. To un...

SPIDR, a massively multiplexed method that simultaneously maps dozens of RNA-binding proteins to their RNA targets at single-nucleotide resolution, uncovers new RNA-protein interactions and provides c...

The constraints that govern the evolution of gene expression patterns across development remain unclear. Single-cell RNA sequencing can detail these constraints by systematically profiling homologous ...

Gastruloids are three-dimensional stem-cell-based models that recapitulate key aspects of mammalian gastrulation, including formation of an anterior-posterior (AP) axis. However, we do not have detail...

Messenger RNA (mRNA) is central in gene expression, and its half-life, localization, and translation efficiency drive phenotypic diversity in eukaryotic cells. While supervised learning has widely bee...

Ever since MAJIQ V2 was released we have been working on V3. It only took us a couple of years, but…. We are (finally!) pleased to announce the release of MAJIQ V3, a major update to our soft…

A discovery in Yellowstone National Park led to the development of PCR, the gold-standard COVID-19 tests used to fight the global pandemic.

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 (RBPs) that alt...

In today’s blog post, I want to discuss some work/claims related to a topic that has been one of my lab’s focus areas – predicting tissue-specific alternative splicing (AS) of RNA. Some backg…

We are shocked and saddened by the news that our colleague and Max Planck Fellow Sayan Mukherjee passed away. He was a dear colleague in Leipzig who formed a vital connection between mathematics, comp...