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2018 ; 19
(1
): 118-135
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Computational pan-genomics: status, promises and challenges
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Brief Bioinform
2018[Jan]; 19
(1
): 118-135
PMID27769991
show ga
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.