Is it time to change the reference genome?

被引：117

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.

引用

页数：9

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