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ARCS: scaffolding genome drafts with linked reads.


ABSTRACT: Motivation:Sequencing of human genomes is now routine, and assembly of shotgun reads is increasingly feasible. However, assemblies often fail to inform about chromosome-scale structure due to a lack of linkage information over long stretches of DNA-a shortcoming that is being addressed by new sequencing protocols, such as the GemCode and Chromium linked reads from 10?×?Genomics. Results:Here, we present ARCS, an application that utilizes the barcoding information contained in linked reads to further organize draft genomes into highly contiguous assemblies. We show how the contiguity of an ABySS H.sapiens genome assembly can be increased over six-fold, using moderate coverage (25-fold) Chromium data. We expect ARCS to have broad utility in harnessing the barcoding information contained in linked read data for connecting high-quality sequences in genome assembly drafts. Availability and implementation:https://github.com/bcgsc/ARCS/. Contact:rwarren@bcgsc.ca. Supplementary information:Supplementary data are available at Bioinformatics online.

SUBMITTER: Yeo S 

PROVIDER: S-EPMC6030987 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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ARCS: scaffolding genome drafts with linked reads.

Yeo Sarah S   Coombe Lauren L   Warren René L RL   Chu Justin J   Birol Inanç I  

Bioinformatics (Oxford, England) 20180301 5


<h4>Motivation</h4>Sequencing of human genomes is now routine, and assembly of shotgun reads is increasingly feasible. However, assemblies often fail to inform about chromosome-scale structure due to a lack of linkage information over long stretches of DNA-a shortcoming that is being addressed by new sequencing protocols, such as the GemCode and Chromium linked reads from 10 × Genomics.<h4>Results</h4>Here, we present ARCS, an application that utilizes the barcoding information contained in link  ...[more]

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