Facilitating standardized genome annotations

Faster and more reliable genome sequencing has meant that the number of personal genome sequences available is increasing rapidly, yet the analysis of personal human genome sequences has been hampered by the lack of a standard file format to facilitate comparative analyses. In this month’s issue of Genome Biology, Karen Eilbeck and colleagues present GVF, the Genome Variation Format. GVF is an extension of the already widely-used GFF3 standard for describing genome annotations.  The utility of GVF is demonstrated by the analysis of the first 10 publicly-available personal human genomes. The authors term this dataset "10Gen" and hope that this will become the standard reference set to facilitate the analysis of future personal genomes.

GVF and the 10Gen dataset are available at https://www.sequenceontology.org/gvf.html and are also included with the article published on the Genome Biology website here.

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