De novo assembly of human genomes with massively parallel short read sequencing

De novo assembly of human genomes with massively parallel short read sequencing

2010 | Ruiqiang Li, Hongmei Zhu, Jue Ruan, Wubin Qian, Xiaodong Fang, Zhongbin Shi, Yingrui Li, Shengting Li, Gao Shan, Karsten Kristiansen, Songgang Li, Huanming Yang, Jian Wang, and Jun Wang
The article describes a novel method for de novo assembly of human genomes using massively parallel short read sequencing. The authors developed a de novo short read assembly method that successfully assembled both the Asian and African human genome sequences, achieving an N50 contig size of 7.4 and 5.9 kilobases (kb) and scaffold sizes of 446.3 and 61.9 kb, respectively. This method overcomes the challenges posed by very short read lengths and high sequence redundancy, making it possible to build reference sequences for unexplored genomes in a cost-effective manner. The software, named SOAPdenovo, is integrated into the short oligonucleotide alignment program (SOAP) and has been shown to accurately identify structural variations, particularly small deletions and insertions. The authors also compared the performance of SOAPdenovo with other short read assemblers and found that it outperformed them in terms of contig size and assembly accuracy. The method's effectiveness is demonstrated through the assembly of the human genome, which has broad implications for evolutionary biology, gene annotation, and disease research.The article describes a novel method for de novo assembly of human genomes using massively parallel short read sequencing. The authors developed a de novo short read assembly method that successfully assembled both the Asian and African human genome sequences, achieving an N50 contig size of 7.4 and 5.9 kilobases (kb) and scaffold sizes of 446.3 and 61.9 kb, respectively. This method overcomes the challenges posed by very short read lengths and high sequence redundancy, making it possible to build reference sequences for unexplored genomes in a cost-effective manner. The software, named SOAPdenovo, is integrated into the short oligonucleotide alignment program (SOAP) and has been shown to accurately identify structural variations, particularly small deletions and insertions. The authors also compared the performance of SOAPdenovo with other short read assemblers and found that it outperformed them in terms of contig size and assembly accuracy. The method's effectiveness is demonstrated through the assembly of the human genome, which has broad implications for evolutionary biology, gene annotation, and disease research.
Reach us at info@study.space
[slides] De novo assembly of human genomes with massively parallel short read sequencing. | StudySpace