Tamon Liezel, Ashford James, Nicholls Matthew, de Bruijn Marella F T R, Sahakyan Aleksandr B
MRC WIMM Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 9DS, UK.
MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 9DS, UK.
Hum Genet. 2025 Aug 25. doi: 10.1007/s00439-025-02772-8.
The multiplexed layers of regulatory processes and mechanisms within a cell are, to a degree, encoded in our genome. Unravelling the relationship between DNA sequence and molecular processes is crucial for understanding evolution, interpreting and predicting the consequences of genomic variation. Furthermore, understanding the extent to which DNA sequence contributes to the genome organisation can help reveal the aspects more influenced by other factors. Therefore, here we provide a succinct summary of the emerging genomic sequence code or "grammar" of genomic contact formation and 3D genome organisation. Drawing on different types of evidence from multiple disciplines, from large-scale genomic studies, biochemical in vitro assays, and computational analyses utilising machine learning and other modelling techniques, we aim to inform future research on the present associations between 3D genome organisation and sequence.
细胞内调控过程和机制的多重层次在一定程度上编码于我们的基因组中。阐明DNA序列与分子过程之间的关系对于理解进化、解释和预测基因组变异的后果至关重要。此外，了解DNA序列对基因组组织的贡献程度有助于揭示受其他因素影响更大的方面。因此，在这里我们简要总结了新兴的基因组序列编码或基因组接触形成及三维基因组组织的“语法”。借鉴来自多个学科的不同类型证据，包括大规模基因组研究、生化体外试验以及利用机器学习和其他建模技术的计算分析，我们旨在为未来关于三维基因组组织与序列之间当前关联的研究提供信息。
