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Coordinates and intervals in graph-based reference genomes.

Knut Dagestad RandIvar GryttenAlexander J NederbragtGeir O StorvikIngrid K GladGeir K Sandve
Published in: BMC bioinformatics (2017)
More complex reference genomes, containing alternative loci, require methods to represent genomic data on these structures. Our proposed notation for genomic intervals makes it possible to fully utilize the alternative loci of the GRCh38 assembly and potential future graph-based reference genomes. We have made a Python package for representing such intervals on offset-based coordinate systems, available at https://github.com/uio-cels/offsetbasedgraph . An interactive web-tool using this Python package to visualize genes on a graph created from GRCh38 is available at https://github.com/uio-cels/genomicgraphcoords .
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