scholarly journals Localized Genome Assembly from Reads to Scaffolds: Practical Traversal of the Paired String Graph

Author(s):  
Rayan Chikhi ◽  
Dominique Lavenier
Keyword(s):  
2019 ◽  
Vol 13 (S1) ◽  
Author(s):  
Alexander J. Paul ◽  
Dylan Lawrence ◽  
Myoungkyu Song ◽  
Seung-Hwan Lim ◽  
Chongle Pan ◽  
...  

Abstract Background De novo genome assembly is a technique that builds the genome of a specimen using overlaps of genomic fragments without additional work with reference sequence. Sequence fragments (called reads) are assembled as contigs and scaffolds by the overlaps. The quality of the de novo assembly depends on the length and continuity of the assembly. To enable faster and more accurate assembly of species, existing sequencing techniques have been proposed, for example, high-throughput next-generation sequencing and long-reads-producing third-generation sequencing. However, these techniques require a large amounts of computer memory when very huge-size overlap graphs are resolved. Also, it is challenging for parallel computation. Results To address the limitations, we propose an innovative algorithmic approach, called Scalable Overlap-graph Reduction Algorithms (SORA). SORA is an algorithm package that performs string graph reduction algorithms by Apache Spark. The SORA’s implementations are designed to execute de novo genome assembly on either a single machine or a distributed computing platform. SORA efficiently compacts the number of edges on enormous graphing paths by adapting scalable features of graph processing libraries provided by Apache Spark, GraphX and GraphFrames. Conclusions We shared the algorithms and the experimental results at our project website, https://github.com/BioHPC/SORA. We evaluated SORA with the human genome samples. First, it processed a nearly one billion edge graph on a distributed cloud cluster. Second, it processed mid-to-small size graphs on a single workstation within a short time frame. Overall, SORA achieved the linear-scaling simulations for the increased computing instances.


2018 ◽  
Author(s):  
Chung-Tsai Su ◽  
Ming-Tai Chang ◽  
Yun-Chian Cheng ◽  
Yun-Lung Li ◽  
Yao-Ting Wang

AbstractSummary: De novo genome assembly is an important application on both uncharacterized genome assembly and variant identification in a reference-unbiased way. In comparison with de Brujin graph, string graph is a lossless data representation for de novo assembly. However, string graph construction is computational intensive. We propose GraphSeq to accelerate string graph construction by leveraging the distributed computing framework.Availability and Implementation: GraphSeq is implemented with Scala on Spark and freely available at https://www.atgenomix.com/blog/graphseq.Supplementary information: Supplementary data are available at Bioinformatics online.


Author(s):  
Giulia Guidi ◽  
Oguz Selvitopi ◽  
Marquita Ellis ◽  
Leonid Oliker ◽  
Katherine Yelick ◽  
...  

2019 ◽  
Author(s):  
Yongshuang Xiao ◽  
Zhizhong Xiao ◽  
Daoyuan Ma ◽  
Chenxi Zhao ◽  
Lin Liu ◽  
...  

Author(s):  
Yi‐Ming Weng ◽  
Charlotte B. Francoeur ◽  
Cameron R. Currie ◽  
David H. Kavanaugh ◽  
Sean D. Schoville

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Guifang Lin ◽  
Cheng He ◽  
Jun Zheng ◽  
Dal-Hoe Koo ◽  
Ha Le ◽  
...  

Abstract Background The maize inbred line A188 is an attractive model for elucidation of gene function and improvement due to its high embryogenic capacity and many contrasting traits to the first maize reference genome, B73, and other elite lines. The lack of a genome assembly of A188 limits its use as a model for functional studies. Results Here, we present a chromosome-level genome assembly of A188 using long reads and optical maps. Comparison of A188 with B73 using both whole-genome alignments and read depths from sequencing reads identify approximately 1.1 Gb of syntenic sequences as well as extensive structural variation, including a 1.8-Mb duplication containing the Gametophyte factor1 locus for unilateral cross-incompatibility, and six inversions of 0.7 Mb or greater. Increased copy number of carotenoid cleavage dioxygenase 1 (ccd1) in A188 is associated with elevated expression during seed development. High ccd1 expression in seeds together with low expression of yellow endosperm 1 (y1) reduces carotenoid accumulation, accounting for the white seed phenotype of A188. Furthermore, transcriptome and epigenome analyses reveal enhanced expression of defense pathways and altered DNA methylation patterns of the embryonic callus. Conclusions The A188 genome assembly provides a high-resolution sequence for a complex genome species and a foundational resource for analyses of genome variation and gene function in maize. The genome, in comparison to B73, contains extensive intra-species structural variations and other genetic differences. Expression and network analyses identify discrete profiles for embryonic callus and other tissues.


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