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

Author

Jun Zhou

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Aug 2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

The findings demonstrate that functionally verified promoter variants represent a previously unrecognised determinant of mortality risk, highlighting the potential value of looking beyond coding sequences in future studies and provide clues that functional promoter variants may merit consideration when expanding action...

Congcong Chen, Jiawen Zhu, Ziye Xu et al. · 0 citations
Open access Aug 2026

Large-scale whole-genome sequencing reveals the landscape and health implications of de novo mutations.

Paternal and maternal aging exhibited distinct mutational patterns, with maternal DNM accumulation accelerating at advanced ages, and in vitro embryo manipulation was associated with increased early post-zygotic mosaic mutations, particularly C > A substitutions linked to delayed neurocognitive development at 1 year.

N. Qin, Jun-Cheng Dai, Yue Jiang et al. · 1 citation
Jul 2026

Functional noncoding variants within the TBX1 enhancer contribute to tetralogy of Fallot.

This study demonstrates the involvement of noncoding variants in the TBX1 enhancer in TOF pathogenesis, highlighting the feasibility of using organoids to decipher the underlying mechanisms of unconserved noncoding regions in developmental malformations.

Jimiao Gao, T. Jiang, Yingyi Quan et al. · 0 citations

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