Giovanni Pascarella @mokurai79
Research Scientist @ RIKEN IMS riken.jp/en/research/la… Tokyo Joined April 2009-
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Giovanni Pascarella retweeted
embopress.org/doi/full/10.10… Today on World Alzheimer's Day we published in @EMBO Journal that #Alzheimer's diseases (#AD) is associated with DNA damage at #telomeres and that inhibition of telomeric DNA damage signaling with telomeric #ASO improves neurons cell viability.
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Giovanni Pascarella retweeted
New pre-print: We show that L1 insertion intermediates can recombine with one another or with DNA breaks to form genome rearrangements, highlighting the risk of L1 retrotransposition generating substrates for aberrant recombination and genome instability. biorxiv.org/content/10.110…
Giovanni Pascarella retweeted
I recently learned that the novelist, Cormac McCarthy, spent several years at the Santa Fe Institute helping scientists write papers. His advice was condensed into a brief Nature column. The first three points, and some of the final points, are really good. (h/t @eryney_ok)
Giovanni Pascarella retweeted
Activation of transposable elements is linked to a region- and cell-type-specific interferon response in Parkinson’s disease biorxiv.org/content/10.110…
Giovanni Pascarella retweeted
Cancer is an evolutionary disease, but does knowing a cancer’s evolutionary past help predict its future? Out today in @Nature, we learnt the evolution of 2000 lymphoid cancers and found it was highly correlated with clinical outcomes! (1/7, link below)
Giovanni Pascarella retweeted
Genome-wide mapping of RNA-protein associations through sequencing go.nature.com/4gmf1Ii
Giovanni Pascarella retweeted
Whole-genome doubling (WGD) occurs in ~30% of solid tumors and is linked to poor outcomes. Is it a one-time event or an ongoing mutational process? In our new @Nature paper now in print, we show WGD continuously shapes tumor evolution and immune evasion. nature.com/articles/s4158…
Giovanni Pascarella retweeted
fascinating new paper on RNA-seq analysis from living human brain tissue, which differs from results found in preserved/autopsied samples nature.com/articles/s4138…
Giovanni Pascarella retweeted
LINE-1 retrotransposons mediate cis-acting transcriptional control in human pluripotent stem cells and regulate early brain development dlvr.it/TMdp9S
Giovanni Pascarella retweeted
One of the most complex regions in the human genome revealed. To me, it was fascinating to combine genome assembly and pangenome graphs (PGR-TK in Fig. 3e) algorithm techniques to uncover the hidden diversity across human populations. #genomics #bioinformatics
Giovanni Pascarella retweeted
Very glad to see this preprint by @lh3lh3 and @meyersonlab confirming our finding of artifactual fold-back INV in long reads (Fig S1 in our @naturemethods paper presenting #SAVANA, which filters such artifacts to improve SV calling, hence their relevance nature.com/articles/s4159…
Very glad to see this preprint by @lh3lh3 and @meyersonlab confirming our finding of artifactual fold-back INV in long reads (Fig S1 in our @naturemethods paper presenting #SAVANA, which filters such artifacts to improve SV calling, hence their relevance nature.com/articles/s4159… https://t.co/ufL3hKZXB7
Giovanni Pascarella retweeted
New online! Structural variants in the 3D genome as drivers of disease bit.ly/44FiIo5
Giovanni Pascarella retweeted
What a mind-blowing week for AI in biology! 🚀 Xaira just dropped the largest genome-wide perturbation dataset ever last week 🧬 Arc unveiled STATE yesterday, the most powerful foundation model for single-cell perturbation prediction 🧠 DeepMind followed up with AlphaGenome,…
Giovanni Pascarella retweeted
Architectural RNAs: blueprints for functional membraneless organelle assembly dlvr.it/TLKTCW
Giovanni Pascarella retweeted
Direct detection of 8-oxo-dG using nanopore sequencing. #DNAmodifications #Nanopore #Sequencing @nanopore @NatureComms nature.com/articles/s4146…
Giovanni Pascarella retweeted
We made a huge poster that illustrates all of the major genome editing tools in one place. You can download a copy for free from the @AsimovPress website. press.asimov.com/articles/crisp…
Giovanni Pascarella retweeted
Thrilled to see #SAVANA out in @naturemethods🥳 SAVANA detects haplotype-resolved somatic SVs and copy number aberrations (SCNAs) and infers tumour purity & ploidy in clinical samples using long-read sequencing with or WITHOUT a matched germline control 👇nature.com/articles/s4159…
Another amazing discovery about something amazing that repeat elements do! cell.com/cell/fulltext/…
Giovanni Pascarella retweeted
New online! Simultaneous single-cell sequencing of RNA and DNA at scale with DEFND-seq bit.ly/4ddqzfj
Giovanni Pascarella retweeted
Where does Alzheimer’s begin in the brain? Our new study in @NeuroCellPress reveals that earliest changes start deep in cortical layers 5/6, selectively affecting parvalbumin interneurons via reduced NPTX2 & GluA4. Restoring NPTX2 reversed deficits. cell.com/neuron/fulltex…
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