Veronica Finazzi

To ensure reproducibility, we implemented the entire TE quantification pipeline in a Snakemake workflow and performed the evaluation in notebooks, all of which are openly available on GitHub and Zenodo github.com/ScialdoneLab...

In brief: locus-level quantification works well for older elements but remains challenging for young TEs with low sequence divergence. Accurate gene-TE disambiguation also continues to be a major open problem.

Happy to share our new preprint! 📊

We benchmarked methods for locus-level transposable element quantification in short-read scRNA-seq, using both real datasets and simulations with read-level ground truth.

Huge thanks to @catavallejos.bsky.social and @antonio-scialdone.bsky.social!

#TEsky

Shedding light on the molecular mechanisms of Gabriele-de Vries Syndrome - Human Technopole Using advanced stem cell models, Human Technopole researchers show how mutations in the YY1 gene cause widespread dysregulation of genes crucial for brain development in multiple cell types, leading t...

🧠🔬 New research from our Testa Group sheds light on Gabriele-de Vries Syndrome: using advanced stem cell models, the team reveals how YY1 mutations disrupt brain development, offering new insights into potential treatments

In Molecular Psychiatry

humantechnopole.it/en/news/shed...

I'm proud to share that our modeling of #YY1 haploinsufficiency has just been published! www.nature.com/articles/s41... Using #organoids and #neurons we discovered that YY1 mutations affect the cross-talk between cells and also cause a non-cell autonomous phenotype in a cell-type specific manner.