Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
Trends Genet. 2021 Sep;37(9):807-818. doi: 10.1016/j.tig.2020.12.002. Epub 2021 Jan 5.
The reference genome serves two distinct purposes within the field of genomics. First, it provides a persistent structure against which findings can be reported, allowing for universal knowledge exchange between users. Second, it reduces the computational costs and time required to process genomic data by creating a scaffold that can be relied upon by analysis software. Here, we posit that current efforts to extend the linear reference to a graph-based structure while trying to fulfil both of these purposes concurrently will face a trade-off between comprehensiveness and computational efficiency. In this article, we explore how the reference genome is used and suggest an alternative structure, The Genome Atlas (TGA), to fulfil the bipartite role of the reference genome.
参考基因组在基因组学领域有两个不同的用途。首先，它提供了一个持久的结构，研究结果可以据此报告，从而使用户之间可以进行通用的知识交流。其次，它通过创建一个可以被分析软件依赖的支架，降低了处理基因组数据所需的计算成本和时间。在这里，我们假设目前将线性参考扩展到基于图的结构的努力，同时试图同时满足这两个目的，将面临全面性和计算效率之间的权衡。在本文中，我们探讨了参考基因组的使用方式，并提出了一种替代结构——基因组图谱（TGA），以满足参考基因组的双重作用。
