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Updated: Jun 12, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
State of the art de novo assembly of human genomes from massively parallel sequencing data
Yingrui Li1, Yujie Hu, Lars Bolund
1BGI-Shenzhen, Shenzhen, Guangdong, China.
Abstract:
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 bottlenecks 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.
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