Atrial fibrillation (AF), the most common sustained arrhythmia, has a complex genetic basis; however, the molecular mechanisms linking rare and common variants remain poorly understood. Polygenic risk score (PRS) analysis in the UK Biobank and All of Us cohorts reveals that carriers of protein-altering LMNA variants (PAVs) have a significantly higher risk of incident AF than predicted by PRS alone, supporting an additive effect of common polymorphisms and LMNA variants. Induced pluripotent stem cell derived atrial cardiomyocytes (iPSC-aCMs) from individuals carrying the pathogenic missense variant p.S143P in LMNA exhibit widespread disruption of chromatin architecture and perturbation of atrial gene regulatory networks, particularly at loci harboring AF-associated variants and transcription factors essential for atrial rhythm control and contractility. Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-based epigenetic editing validates the function of several AF-associ

Atrial fibrillation has both rare and common genetic contributors, but how they interact has been unclear. Here, the authors show that pathogenic LMNA variants amplify polygenic risk and disrupt atria...

The three-dimensional (3D) organization of the genome is strongly influenced by interactions between chromatin and lamin proteins at the nuclear envelope. Here, we investigate the role of lamina-assoc...

Genome function requires regulated genome motion. However, tools to directly observe this motion in vivo have been limited in coverage and resolution. Here we introduce an approach to tile mammalian c...

Genomics; Chromosome organization; Molecular Genetics; Cancer

Atrial fibrillation (AF) is a common arrhythmia with a complex genetic basis, yet the molecular mechanisms linking rare and common variants remain unclear. Using induced pluripotent stem cell-derived ...

Dudek et al. use chromatin accessibility data in liver from 170 human donors to measure transcription factor binding at genetic variants. They observed 809 variants associated with binding. Given bind...

Javed and Weingarten et al. created a multi-modal transformer that learns generalizable representations of genomic sequence and chromatin accessibility by utilizing a novel masked-accessibility pre-tr...

Latent embedding multivariate regression models multi-condition single-cell RNA-seq using a continuous latent space, enabling data integration, per-cell gene expression prediction and clustering-free ...

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Despite extensive mapping of cis-regulatory elements (cREs) across cellular contexts with chromatin accessibility assays, the sequence syntax and genetic variants that regulate transcription factor (T...

The inherent similarities between natural language and biological sequences have inspired the use of large language models in genomics, but current models struggle to incorporate chromatin interaction...

Szalay et al. discuss cross-kingdom similarities and differences in 3D chromatin folding in relation to gene regulation, including in bacteria, archaea, mammals and plants. This comparison reveals cer...

Bridge to Faculty Postdoctoral Research Associate in Microbiology and ImmunologyThe Department of Microbiology and Immunology (MI) at the University o...

Bioinformatics Post Doctoral Researcher - SJ Dawson

ChIP-DIP (ChIP done in parallel) is a highly multiplex assay for protein–DNA binding, scalable to hundreds of proteins including modified histones, chromatin regulators and transcription factors, offe...

Variant calling using long-read RNA sequencing (lrRNA-seq) can be applied to diverse tasks, such as capturing full-length isoforms and gene expression profiling. It poses challenges, however, due to h...

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