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2017 ; 18
(1
): 263
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Coordinates and intervals in graph-based reference genomes
#MMPMID28521770
Rand KD
; Grytten I
; Nederbragt AJ
; Storvik GO
; Glad IK
; Sandve GK
BMC Bioinformatics
2017[May]; 18
(1
): 263
PMID28521770
show ga
BACKGROUND: It has been proposed that future reference genomes should be graph
structures in order to better represent the sequence diversity present in a
species. However, there is currently no standard method to represent genomic
intervals, such as the positions of genes or transcription factor binding sites,
on graph-based reference genomes. RESULTS: We formalize offset-based coordinate
systems on graph-based reference genomes and introduce methods for representing
intervals on these reference structures. We show the advantage of our methods by
representing genes on a graph-based representation of the newest assembly of the
human genome (GRCh38) and its alternative loci for regions that are highly
variable. CONCLUSION: 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 .