Error correcting optical mapping data

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http://hdl.handle.net/10138/247093

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Mukherjee , K , Washimkar , D , Muggli , M D , Salmela , L & Boucher , C 2018 , ' Error correcting optical mapping data ' , GigaScience , vol. 7 , no. 6 , pp. 1-10 . https://doi.org/10.1093/gigascience/giy061

Title: Error correcting optical mapping data
Author: Mukherjee, Kingshuk; Washimkar, Darshan; Muggli, Martin D.; Salmela, Leena; Boucher, Christina
Contributor: University of Helsinki, Genome-scale Algorithmics research group / Veli Mäkinen
Date: 2018-05-25
Language: eng
Number of pages: 10
Belongs to series: GigaScience
ISSN: 2047-217X
URI: http://hdl.handle.net/10138/247093
Abstract: Optical mapping is a unique system that is capable of producing high-resolution, high-throughput genomic map data that gives information about the structure of a genome . Recently it has been used for scaffolding contigs and for assembly validation for large-scale sequencing projects, including the maize, goat, and Amborella genomes. However, a major impediment in the use of this data is the variety and quantity of errors in the raw optical mapping data, which are called Rmaps. The challenges associated with using Rmap data are analogous to dealing with insertions and deletions in the alignment of long reads. Moreover, they are arguably harder to tackle since the data are numerical and susceptible to inaccuracy. We develop cOMet to error correct Rmap data, which to the best of our knowledge is the only optical mapping error correction method. Our experimental results demonstrate that cOMet has high prevision and corrects 82.49% of insertion errors and 77.38% of deletion errors in Rmap data generated from the Escherichia coli K-12 reference genome. Out of the deletion errors corrected, 98.26% are true errors. Similarly, out of the insertion errors corrected, 82.19% are true errors. It also successfully scales to large genomes, improving the quality of 78% and 99% of the Rmaps in the plum and goat genomes, respectively. Last, we show the utility of error correction by demonstrating how it improves the assembly of Rmap data. Error corrected Rmap data results in an assembly that is more contiguous and covers a larger fraction of the genome.
Subject: 113 Computer and information sciences
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