🚨New preprint🚨, sharpening our characterisation of regulatory changes and human brain evolution. Thanks to new FANTOM6 data, we now focus on noncoding RNAs and how ncRNA–TF cooperation + selective cis-regulatory rewiring could have contributed to sapiens-specific aspects of cortical development 🧪🧠🧬
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
🧠🔬 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.