Graphtyper enables population-scale genotyping using pangenome graphs View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-11

AUTHORS

Hannes P Eggertsson, Hakon Jonsson, Snaedis Kristmundsdottir, Eirikur Hjartarson, Birte Kehr, Gisli Masson, Florian Zink, Kristjan E Hjorleifsson, Aslaug Jonasdottir, Adalbjorg Jonasdottir, Ingileif Jonsdottir, Daniel F Gudbjartsson, Pall Melsted, Kari Stefansson, Bjarni V Halldorsson

ABSTRACT

A fundamental requirement for genetic studies is an accurate determination of sequence variation. While human genome sequence diversity is increasingly well characterized, there is a need for efficient ways to use this knowledge in sequence analysis. Here we present Graphtyper, a publicly available novel algorithm and software for discovering and genotyping sequence variants. Graphtyper realigns short-read sequence data to a pangenome, a variation-aware graph structure that encodes sequence variation within a population by representing possible haplotypes as graph paths. Our results show that Graphtyper is fast, highly scalable, and provides sensitive and accurate genotype calls. Graphtyper genotyped 89.4 million sequence variants in the whole genomes of 28,075 Icelanders using less than 100,000 CPU days, including detailed genotyping of six human leukocyte antigen (HLA) genes. We show that Graphtyper is a valuable tool in characterizing sequence variation in both small and population-scale sequencing studies. More... »

PAGES

1654-1660

References to SciGraph publications

  • 2014-12. Genome alignment with graph data structures: a comparison in BMC BIOINFORMATICS
  • 2015-05. Large-scale whole-genome sequencing of the Icelandic population in NATURE GENETICS
  • 2012-02. De novo assembly and genotyping of variants using colored de Bruijn graphs in NATURE GENETICS
  • 2017-09. Parental influence on human germline de novo mutations in 1,548 trios from Iceland in NATURE
  • 2017-09-21. Whole genome characterization of sequence diversity of 15,220 Icelanders in SCIENTIFIC DATA
  • 2015-06. Improved genome inference in the MHC using a population reference graph in NATURE GENETICS
  • 2016. A Natural Encoding of Genetic Variation in a Burrows-Wheeler Transform to Enable Mapping and Genome Inference in ALGORITHMS IN BIOINFORMATICS
  • 2009-09. Simultaneous alignment of short reads against multiple genomes in GENOME BIOLOGY
  • 2014-08. Whole-genome sequence variation, population structure and demographic history of the Dutch population in NATURE GENETICS
  • 2008-11. The diploid genome sequence of an Asian individual in NATURE
  • 2015-10. An integrated map of structural variation in 2,504 human genomes in NATURE
  • 2016-10. De novo assembly and phasing of a Korean human genome in NATURE
  • 2014-08. Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications in NATURE GENETICS
  • 2015-10. A global reference for human genetic variation in NATURE
  • 2010-01. Building the sequence map of the human pan-genome in NATURE BIOTECHNOLOGY
  • 1985. HLA and Disease Associations in NONE
  • 2008-11. Accurate whole human genome sequencing using reversible terminator chemistry in NATURE
  • 2015-12. Extending reference assembly models in GENOME BIOLOGY
  • 2011-05. A framework for variation discovery and genotyping using next-generation DNA sequencing data in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3964

    DOI

    http://dx.doi.org/10.1038/ng.3964

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1091911912

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28945251


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