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Assessment of human diploid genome assembly with 10x Linked-Reads data
GigaScience ( IF 9.2 ) Pub Date : 2019-11-26 , DOI: 10.1093/gigascience/giz141
Lu Zhang 1, 2, 3 , Xin Zhou 3 , Ziming Weng 2 , Arend Sidow 2, 4
Affiliation  

Producing cost-effective haplotype-resolved personal genomes remains challenging. 10x Linked-Read sequencing, with its high base quality and long-range information, has been demonstrated to facilitate de novo assembly of human genomes and variant detection. In this study, we investigate in depth how the parameter space of 10x library preparation and sequencing affects assembly quality, on the basis of both simulated and real libraries.

中文翻译:

使用10倍Linked-Reads数据评估人类二倍体基因组装配

生产具有成本效益的单倍型分辨的个人基因组仍然具有挑战性。具有高碱基质量和长距离信息的10x Linked-Read测序已被证明可以促进人类基因组从头组装和变异检测。在这项研究中,我们将基于模拟库和实际库,深入研究10x库准备和测序的参数空间如何影响组装质量。
更新日期:2019-11-26
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