Thursday, February 19, 2015

GRC Website: Individual Genome Issues

Are you looking for the latest status updates from the GRC on the human, mouse or zebrafish reference genome assemblies? In companion to our previous post, we now explain how to use the Individual Genome Issue reports on the GRC website. As described in our last blog, you can filter and search for issues of interest using the organism-specific "Issues Under Review" pages. To provide an example for this blog post, we applied the follow filtering options on the human "Issues Under Review" page: issues location = GRCh38.p2, chromosome = chr3 , type = variation and scaffold type = ALT (alternative loci). We then selected HG-1291 from column 1 of the results table to go to the individual issue page, shown below in Figure 1. On this and other individual issue pages, you'll find the following information:
  • Summary fields describing the issue and its latest status updates or resolution (blue box)
  • Ideogram showing the issue's genomic location (green box)
  • Patch and/or alternate loci status and history (orange box)
  • Graphical view of genomic region to which issue is mapped (red box). 
    • Note: graphical views are provided for all mapped locations in the previous and current assembly versions. For example, HG-1291 has been mapped to chr. 3 and an alternate locus scaffold in GRCh38.p2, and to chr. 3 and a novel patch in GRCh37.p13. Use the radio buttons to toggle the display between the different sequence locations.
Figure 1. GRC Issue page for HG-1291, with page features highlighted.

Below, figure 2 shows the graphical view of the GRCh38.p2 alternate locus scaffold to which HG-1291 has been mapped (NW_003871060.2). Default tracks in the graphical views provide you with additional information about the assembly composition and quality. They include:

  • Assembly components
  • Alignments of alternate loci/patch scaffolds to the primary assembly
  • Annotated component assembly problems
  • All GRC issues mapped to the region
  • NCBI Gene annotation
  • Ensembl Gene annotation

In this image of HG-1291, review of the Genes and Alignment tracks reveals two exons in a region of the alternate loci that has no alignment to the chromosome (arrow and circle). This annotation supports the description in the Issue Summary fields. You can further configure the tracks or upload your own data files to the graphical view by clicking on the "Configure" button at the top right of the viewer (red box).
Figure 2. Graphical view of NW_003871060.2, the GRCh38.p2 alternate loci scaffold to which issue HG-1291 is mapped. The exons captured by the additional sequence in the scaffold are highlighted.

If you have questions about any of the issues you see, please contact the GRC and reference the issue number. If you know of a genome issue that isn't found on these pages, please report the issue to the GRC.


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