Is it time to change the reference genome?

被引：110
作者：
Ballouz, Sara [1 ]
Dobin, Alexander [1 ]
Gillis, Jesse A. [1 ]
机构：
[1] Cold Spring Harbor Lab, Stanley Inst Cognit Genom, POB 100, Cold Spring Harbor, NY 11724 USA
来源：
GENOME BIOLOGY | 2019年 / 20卷 / 01期
基金：
美国国家卫生研究院;
关键词：
SEQUENCE; GENE; MAP; VARIANTS; GRAPHS; GRCH38; READ; TOOL;
D O I：
10.1186/s13059-019-1774-4
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
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.
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页数：9
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