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Computational pan-genomics: status, promises and challenges
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Number of Authors: 592018 (English)In: Briefings in Bioinformatics, ISSN 1467-5463, E-ISSN 1477-4054, Vol. 19, no 1, p. 118-135Article in journal (Refereed) Published
Abstract [en]

Many disciplines, from human genetics and oncology to plant breeding, microbiology and virology, commonly face the challenge of analyzing rapidly increasing numbers of genomes. In case of Homo sapiens, the number of sequenced genomes will approach hundreds of thousands in the next few years. Simply scaling up established bioinformatics pipelines will not be sufficient for leveraging the full potential of such rich genomic data sets. Instead, novel, qualitatively different computational methods and paradigms are needed. We will witness the rapid extension of computational pan-genomics, a new sub-area of research in computational biology. In this article, we generalize existing definitions and understand a pan-genome as any collection of genomic sequences to be analyzed jointly or to be used as a reference. We examine already available approaches to construct and use pan-genomes, discuss the potential benefits of future technologies and methodologies and review open challenges from the vantage point of the above-mentioned biological disciplines. As a prominent example for a computational paradigm shift, we particularly highlight the transition from the representation of reference genomes as strings to representations as graphs. We outline how this and other challenges from different application domains translate into common computational problems, point out relevant bioinformatics techniques and identify open problems in computer science. With this review, we aim to increase awareness that a joint approach to computational pan-genomics can help address many of the problems currently faced in various domains.

Place, publisher, year, edition, pages
2018. Vol. 19, no 1, p. 118-135
Keywords [en]
pan-genome, sequence graph, read mapping, haplotypes, data structures
National Category
Bioinformatics (Computational Biology) Biological Sciences
Identifiers
URN: urn:nbn:se:su:diva-153888DOI: 10.1093/bib/bbw089ISI: 000423311000011PubMedID: 27769991OAI: oai:DiVA.org:su-153888DiVA, id: diva2:1188381
Available from: 2018-03-07 Created: 2018-03-07 Last updated: 2018-03-07Bibliographically approved

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Dutilh, Bas E.Makinen, VeliAlkan, CanMartin, Marcel
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