Transposable elements mobilize within and occasionally between genomes, including from host to virus. We identified two insertions of the human BC200 noncoding RNA gene in the poxvirus molluscum conta...

This Review discusses how rare-disease-causing variants in the noncoding genome impact gene regulation, why these examples are so few and how new approaches could accelerate discovery of noncoding var...

Abstract. Insertion sequences (ISs) are widespread prokaryotic transposable elements, often regarded as genomic parasites that primarily cause deleterious

Single-cell technologies enable linking disease-risk variants to gene regulatory effects in specific cell-state contexts. However, most so called "single-cell eQTL" studies use a "pseudobulking" strat...

“The genetics underpinning autism is extremely complex. But the evidence for primarily genetic causation is overwhelming…” writes Kevin Mitchell.

This study introduces iChIP2, a low-input chromatin immunoprecipitation followed by sequencing method that profiles histone post-translational modifications (hPTMs) simultaneously across diverse eukar...

The roles of transposable elements in primate brain development remain underexplored. Here, the authors identify transposable elements with ancestral regulatory potential that have been co-opted as ci...

For centuries, scholars have debated the etiology and evolution of writing. The most persistent concerns relate to the relationship between writing and social organization, linguistic structure, and c...

This study establishes an imaging-based multimodal characterization (IMC) platform to link in vivo activity, whole-brain morphology, and spatial gene expression in the same cortical projection neurons...

Chord diagrams can be used to show relationships or flows between and within categories. This blog post introduces ggchord2, a new package that makes it possible to create them using ggplto2 in R.

Loss of the conserved splicing factor for neuronal microexons disrupts neuromodulatory signaling and drives hyperarousal.

Cis-regulatory elements, such as enhancers, play an essential role in coordinating gene expression programs during cellular transitions. As such, substantial efforts have been made to characterize enh...

Vota a las finalistas del premio Vanguardia de la Ciencia

Abstract. Safeguarding the genome from non-self elements is essential for development, reproduction, and ageing. One of the major threats to genomic integr

LINE-1 (L1) retrotransposition generates somatic genomic variation in human cancer, but short-read sequencing has limited our understanding of its structural consequences and dynamics. Using long-read...

Nuclear speckles are key subnuclear structures that regulate gene expression in GC-rich regions. This work shows that the evolution and expansion of core speckle proteins were crucial for the increase...

Analysis of the somatic and transcriptomic profile of 123 acral melanoma samples from Mexican patients helps understand tumour origins and prognosis, and highlights the importance of including samples...

Analyzing data of the Mexican Biobank project, a new study finds regional differences in clinically relevant genetic frequencies and presents MexVar, a publicly accessible resource designed to support...

Investigadors del CRG han col·laborat amb un equip de Harvard per desenvolupar popEVE, una eina d'intel·ligència artificial que ha estat capaç de detectar 123 noves mutacions causants de malalties; 104 d'elles s'han observat només en un o dos pacients.

The impact of transcription on germline mutagenesis remains poorly understood. Here, the authors identify a mutational hotspot at transcription start sites in the human germline that is significantly ...

Paleogenomic studies suggest that Mammuthus columbi derives from an ancient hybridization between Mammuthus primigenius and Mammuthus trogontherii. While its habitat spanned from North to Central Amer...

ALT: a 3d rendering of a colorful dna molecule with a black background

Competition between transcription factors and mismatch repair machinery drives localized hypermutation at regulatory elements, with implications for cancer and genome evolution.