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Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkit
[article]
2020
bioRxiv
pre-print
We introduce Giraffe, a pangenome short read mapper that can efficiently map to a collection of haplotypes threaded through a sequence graph. Giraffe, part of the variation graph toolkit (vg), maps reads to thousands of human genomes at around the same speed BWA-MEM maps reads to a single reference genome, while maintaining comparable accuracy to VG-MAP, vg's original mapper. We have developed efficient genotyping pipelines using Giraffe. We demonstrate improvements in genotyping for single
doi:10.1101/2020.12.04.412486
fatcat:z3lddejn45bvtd7634zpqy43sy