Cold Spring Harbor Laboratory, The Stanley Institute for Cognitive Genomics, Cold Spring Harbor, NY, 11724, USA.
Genome Biol. 2019 Aug 9;20(1):159. doi: 10.1186/s13059-019-1774-4.
The use of the human reference genome has shaped methods and data across modern genomics. This has offered many benefits while creating a few constraints. In the following opinion, we outline the history, properties, and pitfalls of the current human reference genome. In a few illustrative analyses, we focus on its use for variant-calling, highlighting its nearness to a 'type specimen'. We suggest that switching to a consensus reference would offer important advantages over the continued use of the current reference with few disadvantages.
人类参考基因组的使用塑造了现代基因组学的方法和数据。这在带来诸多益处的同时,也带来了一些限制。在本文观点中,我们概述了当前人类参考基因组的历史、特性和缺陷。在几个说明性分析中,我们重点关注其在变异调用中的应用,突出其与“模式标本”的接近程度。我们认为,切换到共识参考基因组将提供比继续使用当前参考基因组重要的优势,而几乎没有缺点。