State of the art de novo assembly of human genomes from massively parallel sequencing data

被引：0
作者：
Li Y. [1 ]
Hu Y. [1 ,2 ]
Bolund L. [1 ,3 ,4 ,5 ]
Wang J. [1 ,2 ]
机构：
[1] BGI-Shenzhen, Shenzhen, Guangdong
[2] The Graduate University of the Chinese Academy of Sciences, Beijing
[3] Department of Biology, University of Copenhagen, Copenhagen
[4] Danish Center for Translational Breast Cancer Research, Copenhagen
[5] Institute of Human Genetics, University of Aarhus
来源：
Human Genomics | / 4卷 / 4期
关键词：
De Bruijn graph; De novo assembly; Massively parallel sequencing;
D O I：
10.1186/1479-7364-4-4-271
中图分类号：
学科分类号：
摘要：
Recent studies in human genomes have demonstrated the use of de novo assemblies to identify genetic variations that are difficult for mapping-based approaches. Construction of multiple human genome assemblies is enabled by massively parallel sequencing, but a conventional bioinformatics solution is costly and slow, creating bottle-necks in the process. This review describes two public short-read de novo assembly applications that can handle human genomes, ABySS and SOAPdenovo. It also discusses the technical aspects and future challenges of human genome de novo assembly by short reads. © HENRY STEWART PUBLICATIONS 1479–7364.
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收藏
页码：271 / 277
页数：6
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