De Novo Assembly of Human Genomes with Massively Parallel Short Read Sequencing

Overview

Journal Genome Res

Specialty Genetics

Date 2009 Dec 19

PMID 20019144

Citations 1484

Authors

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

Jun Wang

Affiliations

Soon will be listed here.

Abstract

Next-generation massively parallel DNA sequencing technologies provide ultrahigh throughput at a substantially lower unit data cost; however, the data are very short read length sequences, making de novo assembly extremely challenging. Here, we describe a novel method for de novo assembly of large genomes from short read sequences. We 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 of 446.3 and 61.9 kb, respectively. The development of this de novo short read assembly method creates new opportunities for building reference sequences and carrying out accurate analyses of unexplored genomes in a cost-effective way.

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