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BMC Genomics. 2017 Jan 25;18(Suppl 1):952. doi: 10.1186/s12864-016-3267-0.

GAAP: Genome-organization-framework-Assisted Assembly Pipeline for prokaryotic genomes.

Yuan L1,2,3, Yu Y4, Zhu Y1, Li Y5, Li C6, Li R1, Ma Q7, Siu GK8, Yu J1, Jiang T2,3, Xiao J9, Kang Y10.

Author information

1
CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, 100101, China.
2
Center for Systems Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100005, China.
3
Suzhou Institute of Systems Medicine, Suzhou, 215123, China.
4
School of Life Sciences, Liaoning University, Shenyang, 110036, China.
5
Beijing SpeedyCloud Technologies Co., Ltd., Beijing, 110036, China.
6
Department of Otolaryngology, Beijing Geriatric Hospital, Beijing, 100095, China.
7
Department of Agronomy, Horticulture, and Plant Science, South Dakota State University, Brookings, SD, 57007, USA.
8
Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong, China.
9
CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, 100101, China. xiaojf@big.ac.cn.
10
CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, 100101, China. kangy@big.ac.cn.

Abstract

BACKGROUND:

Next-generation sequencing (NGS) technologies have greatly promoted the genomic study of prokaryotes. However, highly fragmented assemblies due to short reads from NGS are still a limiting factor in gaining insights into the genome biology. Reference-assisted tools are promising in genome assembly, but tend to result in false assembly when the assigned reference has extensive rearrangements.

RESULTS:

Herein, we present GAAP, a genome assembly pipeline for scaffolding based on core-gene-defined Genome Organizational Framework (cGOF) described in our previous study. Instead of assigning references, we use the multiple-reference-derived cGOFs as indexes to assist in order and orientation of the scaffolds and build a skeleton structure, and then use read pairs to extend scaffolds, called local scaffolding, and distinguish between true and chimeric adjacencies in the scaffolds. In our performance tests using both empirical and simulated data of 15 genomes in six species with diverse genome size, complexity, and all three categories of cGOFs, GAAP outcompetes or achieves comparable results when compared to three other reference-assisted programs, AlignGraph, Ragout and MeDuSa.

CONCLUSIONS:

GAAP uses both cGOF and pair-end reads to create assemblies in genomic scale, and performs better than the currently available reference-assisted assembly tools as it recovers more assemblies and makes fewer false locations, especially for species with extensive rearranged genomes. Our method is a promising solution for reconstruction of genome sequence from short reads of NGS.

KEYWORDS:

Core-gene-defined Genome Organizational Framework (cGOF); Prokaryotic genome; Rearrangement; Scaffolding

PMID:
28198678
PMCID:
PMC5310280
DOI:
10.1186/s12864-016-3267-0
[Indexed for MEDLINE]
Free PMC Article

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