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  • Joined Nov 12, 2026

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Fr4n0b/README.md

Hi there, I'm Francesco Nobile ๐Ÿ‘‹

Medicine & Biomedical Engineering Candidate | Armenise-Harvard Fellow
๐Ÿ“ Center for Genomic Medicine, Massachusetts General Hospital / Harvard Medical School & University of Pavia

I work at the interface of cellular physiology, computational genomics, and translational neurology, focusing on patient-derived human iPSC-neuron disease models, pre-mRNA alternative splicing, and evidence-structure synthesis.


๐Ÿ”ฌ Featured Open-Source Project

  • SYNAPTIK โ€” Evidence-structure analysis and multi-class genomic reconciliation (literature mining, SpliceAI, gnomAD constraint, ClinVar, DepMap) for patient-derived iPSC-neuron research. Built to detect single-lab publication bias and resolve cross-layer contradictions before committing to wet-lab differentiation assays.
    • Tests
    • Python
    • Release

๐Ÿ› ๏ธ Research & Technical Focus

  • Biological Systems: Patient-derived human iPSC-derived neurons (NGN2 induction, dual-SMAD differentiation), synaptic phenotype assays (SYN1/PSD95 puncta quantification, mEPSC electrophysiology).
  • Computational Genomics: Pre-mRNA alternative splicing, SpliceAI, nonsense-mediated decay (NMD), variant prioritization, CRISPR prime-editing pegRNA assay validation.
  • Languages & Frameworks: Python, R, SQLite, Biopython, automated CI/CD testing.

๐Ÿ’ฌ Open for Collaboration

Collaborations with wet labs and computational biologists working on human iPSC models, neurogenetics, and splicing are always welcome. Feel free to open an issue or start a discussion on SYNAPTIK!

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  1. synaptik synaptik Public

    Evidence-structure analysis for iPSC-neuron research: has this experiment been done, what does this phenotype mean, and where do literature, splice prediction, and population genetics disagree?

    Python 1 1