Nov 08, 2016
Oct 24, 2016see all
Feb 16, 2017Human: HG-2186
Clone AC006512.13/RP3-461F17 agrees with the deletion in Reference component U47924.1. RP11 whole genome Illumina reads align fine to this region as well. This variation is under 5kb and doesn't meet the criteria for Alternate Loci representation.
Feb 16, 2017Human: HG-2164
RP11 whole genome Illumina reads align fine to this region, suggesting this is a valid deletion allele. This variation is under 5kb and doesn't meet the criteria for Alternate Loci representation.
Putting sequences into a chromosome context.
The original model for representing the genome assemblies was to use a single, preferred tiling path to produce a single consensus representation of the genome. Subsequent analysis has shown that for most mammalian genomes a single tiling path is insufficient to represent a genome in regions with complex allelic diversity. The GRC is now working to create assemblies that better represent this diversity and provide more robust substrates for genome analysis.
Slides from the GRC workshop at Genome Informatics 2016 and ASHG 2016 are now on SlideShare.
Transitioning to GRCh38 or GRCz10? Try the NCBI Remapping Service, which uses the same assembly-assembly alignments used by the GRC.
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