Abstract
We introduce Dual Coordinate VCF (DVCF), a file format that records genomic variants against two different reference genomes simultaneously and is fully compliant with the current VCF specification. As implemented in the Genozip platform, DVCF enables bioinformatics pipelines to seamlessly operate across two coordinate systems by leveraging the system most advantageous to each pipeline step, simplifying bioinformatics workflows and reducing file generation and associated data storage burden. Moreover, our benchmarking of Genozip DVCF shows that it produces more complete, less erroneous, and less biased translations across coordinate systems than two widely used alternative tools (i.e., LiftoverVcf and CrossMap).
Availability and Implementation Genozip is free for academic use. Documentation is available on https://genozip.com/dvcf.html. Genozip user manual is available on https://genozip.com/manual.html. The source code is available on https://genozip.com/source.html. The scripts for reproducing the benchmarks are available on https://github.com/divonlan/genozip-dvcf-results.
Competing Interest Statement
D.L. intends to receive royalties from commercial users of genozip.