Is it time to change the reference genome?
Is it time to change the reference genome?
复制标题
DOI：
10.1186/s13059-019-1774-4
复制
发表时间：
2019-08-09
期刊：
影响因子：
12.3
通讯作者：
Gillis, Jesse A.
中科院分区：
文献类型：
--
作者：
Ballouz, Sara;Dobin, Alexander;Gillis, Jesse A.
人类参考基因组的使用塑造了现代基因组学中的方法和数据。这提供了许多好处，同时也造成了一些限制。在下面的观点中，我们概述了当前人类参考基因组的历史、特性和缺陷。在一些说明性的分析中，我们将重点放在它在变种召唤中的用法上，强调它与‘模式标本’的相似性。我们认为，与继续使用目前的参考相比，改用协商一致的参考将提供重要的好处，但几乎没有坏处。
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.