The Genome Reference Consortium
At the time the human reference was initially described, it was clear that some regions were recalcitrant to closure with existing technology. What was not as clear was the degree to which structural variation affected our ability to produce a truly representative genome sequence at some loci. It is now apparent that some regions of the genome are sufficiently variable that they are best represented by multiple sequences in order to capture all of the sequence potentially available at these loci.
In order to improve the representation of the reference human genome we have formed the Genome Reference Consortium (GRC). The goal of this group is to correct the small number of regions in the reference that are currently misrepresented, to close as many remaining gaps as possible and to produce alternative assemblies of structurally variant loci when necessary. We will provide mechanisms by which the scientific community can report loci in need of further review. In addition, information about loci currently under review and genome assembly production cycles will be made readily available. The human reference assembly is the cornerstone upon which all whole genome studies are based. It is critical to ensure that we have the best possible view of the genome to facilitate continued progress in understanding and improving human health.
