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

Author

R. Guerrini

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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
Open access Aug 2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

It is shown that determining the clinical significance of CHD8 MVs is challenging, even with detailed clinical information, but that incorporating episignature analysis increases diagnostic yield and will improve the diagnosis and understanding of CHD8-related disorders.

Molly Godfrey, Michael A. Levy, Christopher Campbell et al. · 0 citations
Open access Aug 2026

Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay

A patient with cerebellar atrophy, ataxia, and global developmental delay is described, and trio exome sequencing identified compound heterozygous variants in the final subunit EXOSC6.

Khondakar Sayef Ahammed, Renzo Guerrini, Milo B. Fasken et al. · 0 citations

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