Author

Euan A. Ashley

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Open access Sep 2026

Nucleosome-regulated topological switching in extrachromosomal circular DNAs

Extrachromosomal circular DNA are genetic elements that are implicated in cellular processes such as genomic diversification and instability, along with other genomic mechanisms. However, their structure and chromatinization state are poorly understood. Here we identify a 358 base-pair circular microDNA molecule de...

Sarah A. Harris, Victor Velasco-Berrelleza, W. Sandel et al. · Communications Biology · 0 citations

Open access Aug 2026

MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains

The MetaDome 2027 update is presented, featuring a comprehensively updated dataset and GRCh38 support and showing how MetaDome helped reclassify a de novo missense VUS in RALA and identify 52,463 ClinVar missense VUS for which meta-domains supply otherwise unavailable pathogenic evidence.

Laurens Wiel, F. Ferraro, Jay Yu et al. · bioRxiv · 0 citations

Open access Jul 2026

Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy

This work provides a platform for extending genome engineering in induced pluripotent stem cells to multiplexed assays of variant effects across diverse disease-relevant cellular phenotypes, enhancing the understanding of variant pathogenicity and uncovering novel biological mechanisms that could inform therapeutic str...

Yuta Yamamoto, Kaiser Chua, David W. Staudt et al. · Circulation · 0 citations