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Author

E. Parrini

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Open access Sep 2026

Illumina TruPath genome towards comprehensive high-resolution analysis of genomic diversity and structural complexity

TruPath Genome achieves high-resolution detection of SNVs and indels alongside long-range phasing for CNVs and structural variant (SV) refinement and facilitates telomere-to-telomere assemblies and pangenome development, advancing the understanding of genome biology at an unprecedented scale.

Luca Bertoli, Matteo Orlandi, Aurelia Iuliana Timis et al. · 0 citations
Case report Open access Aug 2026

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.

The father-to-daughter transmission of a novel constitutional TUBB variant, alongside literature review of constitutional and mosaic tubulinopathies, suggest that pathogenic germline TUBB variants can occasionally be inherited.

E. Cellini, D. Mei, Mara Cavallin et al. · 0 citations

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