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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

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

A single genomic assay that delivers complete information across variant classes remains an aspirational goal. Currently, researchers and clinicians rely on an inefficient, expensive combination of short-read sequencing for single-nucleotide variants (SNVs) and small indels, comparative genomic hybridization (CGH) ar...

Luca Bertoli, Matteo Orlandi, Aurelia Iuliana Timis et al. · 0 citations

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