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On enhancing variation detection through pan-genome indexing

Daniel Valenzuela, Niko Välimäki, Esa Pitkänen, Veli Mäkinen
doi: https://doi.org/10.1101/021444
Daniel Valenzuela
1Helsinki Institute for Information Technology HIIT, Department of Computer Science, University of Helsinki, P. O. Box 68 (Gustaf Hällströmin katu 2b), Helsinki FIN-00014, Finland
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Niko Välimäki
2Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Biomedicum, P. O. Box 63 (Haartmaninkatu 8), Helsinki FIN-00014, Finland
3Department of Medical Genetics, Biomedicum, University of Helsinki, Finland
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Esa Pitkänen
2Genome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Biomedicum, P. O. Box 63 (Haartmaninkatu 8), Helsinki FIN-00014, Finland
3Department of Medical Genetics, Biomedicum, University of Helsinki, Finland
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Veli Mäkinen
1Helsinki Institute for Information Technology HIIT, Department of Computer Science, University of Helsinki, P. O. Box 68 (Gustaf Hällströmin katu 2b), Helsinki FIN-00014, Finland
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ABSTRACT

Detection of genomic variants is commonly conducted by aligning a set of reads sequenced from an individual to the reference genome of the species and analyzing the resulting read pileup. Typically, this process finds a subset of variants already reported in databases and additional novel variants characteristic to the sequenced individual. Most of the effort in the literature has been put to the alignment problem on a single reference sequence, although our gathered knowledge on species such as human is pan-genomic: We know most of the common variation in addition to the reference sequence. There have been some efforts to exploit pan-genome indexing, where the most widely adopted approach is to build an index structure on a set of reference sequences containing observed variation combinations.

The enhancement in alignment accuracy when using pan-genome indexing has been demonstrated in experiments, but so far the above multiple references pan-genome indexing approach has not been tested on its final goal, that is, in enhancing variation detection. This is the focus of this article: We study a generic approach to add variation detection support on top of the multiple references pan-genomic indexing approach. Namely, we study the read pileup on a multiple alignment of reference genomes, and propose a heaviest path algorithm to extract a new recombined reference sequence. This recombined reference sequence can then be utilized in any standard read alignment and variation detection workflow. We demonstrate that the approach enhances variation detection on realistic data sets.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission.
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Posted June 25, 2015.
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On enhancing variation detection through pan-genome indexing
Daniel Valenzuela, Niko Välimäki, Esa Pitkänen, Veli Mäkinen
bioRxiv 021444; doi: https://doi.org/10.1101/021444
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On enhancing variation detection through pan-genome indexing
Daniel Valenzuela, Niko Välimäki, Esa Pitkänen, Veli Mäkinen
bioRxiv 021444; doi: https://doi.org/10.1101/021444

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