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One reference genome is not enough
DOI:10.1186/s13059-019-1717-0.png)
摘要
En 中文
A recent study on human structural variation indicates insufficiencies and errors in the human reference genome, GRCh38, and argues for the construction of a human pan-genome.
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期刊
G
IF:
9.4
论文数:
6.4K
被引数:
7.3W
机构
引用论文
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assemblyGRCh38和从头单倍体基因组装配的评估证明了参考装配的持久质量
GENOME RESEARCH
IF5.5
Variation graph toolkit improves read mapping by representing genetic variation in the reference变异图工具包通过表示参考中的遗传变异来改进读取映射
NATURE BIOTECHNOLOGY
IF41.7
Discovery and genotyping of structural variation from long-read haploid genome sequence data
GENOME RESEARCH
IF5.5
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