Published November 18, 2021 | Version Supplemental Material + Submitted + Published
Journal Article Open

SWALO: scaffolding with assembly likelihood optimization

  • 1. ROR icon University of California, Berkeley
  • 2. ROR icon Bangladesh University of Engineering and Technology
  • 3. ROR icon California Institute of Technology

Abstract

Scaffolding, i.e. ordering and orienting contigs is an important step in genome assembly. We present a method for scaffolding using second generation sequencing reads based on likelihoods of genome assemblies. A generative model for sequencing is used to obtain maximum likelihood estimates of gaps between contigs and to estimate whether linking contigs into scaffolds would lead to an increase in the likelihood of the assembly. We then link contigs if they can be unambiguously joined or if the corresponding increase in likelihood is substantially greater than that of other possible joins of those contigs. The method is implemented in a tool called SWALO with approximations to make it efficient and applicable to large datasets. Analysis on real and simulated datasets reveals that it consistently makes more or similar number of correct joins as other scaffolders while linking very few contigs incorrectly, thus outperforming other scaffolders and demonstrating that substantial improvement in genome assembly may be achieved through the use of statistical models. SWALO is freely available for download at https://atifrahman.github.io/SWALO/.

Additional Information

© The Author(s) 2021. Published by Oxford University Press on behalf of Nucleic Acids Research. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. Received: 22 December 2020; Revision received: 16 June 2021; Accepted: 16 August 2021; Published: 20 August 2021. We thank Dan Rokhsar, Páll Melsted, Harold Pimentel, Shannon McCurdy and Nicolas Bray for helpful conversations during the development of SWALO. Funding: NIH [R01 HG006129 to L.P., in part]; Fulbright Science & Technology Fellowship [15093630 to A.R., in part]. Funding for open access charge: NIH [R01 HG006129]. Conflict of interest statement: None declared.

Attached Files

Published - gkab717.pdf

Submitted - 081786v2.full.pdf

Supplemental Material - gkab717_supplemental_file.pdf

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Additional details

Identifiers

Eprint ID
111143
Resolver ID
CaltechAUTHORS:20210930-221100053

Funding

NIH
R01 HG006129
Fulbright Foundation
15093630

Dates

Created
2021-10-04
Created from EPrint's datestamp field
Updated
2021-11-18
Created from EPrint's last_modified field

Caltech Custom Metadata