A relational architecture of the human genome
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Systematic in silico perturbation of every position of the complete telomere-to-telomere human genome, using Nucleotide Transformer v3 on an exascale compute cluster, produced nucleotide-resolution dependency maps organized as a directed, weighted network of position-to-position genomic relationships. The network recovers known biological features and reveals recurrent directional architectures the authors term 'relons', spanning coding, non-coding and unannotated regions. Relons reflect evolutionary and functional constraints and associate with human genetic variation and pathogenic variants, adding a higher-order relational layer to genome organization beyond linear and 3D structure.
Excerpted from biorxiv.org
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- biorxiv.orgA relational architecture of the human genome
Systematic in silico perturbation of every position of the complete telomere-to-telomere human genome, using Nucleotide Transformer v3 on an exascale compute cluster, produced nucleotide-resolution dependency maps organized as a directed, weighted network of position-to-position genomic relationships. The network recovers known biological features and reveals recurrent directional architectures the authors term 'relons', spanning coding, non-coding and unannotated regions. Relons reflect evolutionary and functional constraints and associate with human genetic variation and pathogenic variants, adding a higher-order relational layer to genome organization beyond linear and 3D structure.
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