Modelling haplotypes with respect to reference cohort variation graphs

@inproceedings{Rosen2017ModellingHW,
  title={Modelling haplotypes with respect to reference cohort variation graphs},
  author={Yohei Rosen and Jordan M Eizenga and Benedict Paten},
  booktitle={Bioinformatics},
  year={2017}
}
Motivation Current statistical models of haplotypes are limited to panels of haplotypes whose genetic variation can be represented by arrays of values at linearly ordered bi- or multiallelic loci. These methods cannot model structural variants or variants that nest or overlap. Results A variation graph is a mathematical structure that can encode arbitrarily complex genetic variation. We present the first haplotype model that operates on a variation graph-embedded population reference cohort… CONTINUE READING
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