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Author

Massimo Delledonne

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Review Aug 2026

Toward the clinical application of long-read sequencing in repeat-expansion disorders

This Perspective by the LRS-RED consortium discusses methodological, bioinformatic and diagnostic advances in long-read sequencing (LRS) for repeat-expansion disorders, highlighting the potential of LRS to reshape research and clinical practice.

L. Benarroch, J. Pešović, Marzia Rossato et al. · 0 citations
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

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