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

Author

A. Pagnamenta

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Review Open access Oct 2026

The average individual genome: a survey of nearly 1 million whole-genome sequences

As whole-genome sequencing (WGS) is increasingly used in clinical and public health contexts, clearer expectations regarding the amount of variation present in the “average” human genome are required to contextualise findings. We analysed WGS data from two large population cohorts: 490,541 individuals in UK Biobank (UK...

Harrison I. W. Wright, Robin N. Beaumont, J. Fasham et al. · 0 citations
Open access Oct 2026

Nucleocytoplasmic shuttling of USP15 promotes pathological autophagy that disrupts neural stem cell homeostasis and neurodevelopment.

During organogenesis, stem cells undergo cellular and metabolic remodelling, facilitated by autophagy-mediated turnover of organelles. Autophagy impairment has been linked to human diseases, including neurodevelopmental disorders associated with disrupted neural stem/precursor cell (NPC) homeostasis, but the underlying...

Kaylan M. L. Burns, Mashiat Zaman, Daniel Young et al. · 0 citations
Open access Sep 2026

Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency.

The findings suggest that LiCl may serve as a potential therapeutic strategy for patients with WDFY3 LoF variants and expand on the phenotype related to WDFY3 LoF and provide insights into the pathophysiology using in vitro human and murine neuronal models.

Moritz J. Paha, Arshi Mustafa, Lyvin Tat et al. · 0 citations
Review Open access Aug 2026

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

It is demonstrated that LRS-based SV analysis, supported by orthogonal SRS re-analysis, can resolve clinically significant SVs in families who remain unsolved after standard rare disease testing.

P. Dutta, A. Pagnamenta, Christelle Robert et al. · 0 citations

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