Jul 21, 2021
Nov 30, 2020see all
Jul 12, 2021Human: HG-2594
Jun 10, 2021Human: HG-2373
This 12nt deletion allele has support in the RP11 wgs illumina reads, HG03807 (GCA_003601015.1), and HG01352 (GCA_002209525.1) wgs assemblies. This variation does not meet the GRC criteria for reference update or alternate locus creation.
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 GRC presentations in 2019 are now on SlideShare
The GRC has released GRCm39, a new, coordinate-changing version of the mouse reference assembly! The next patch release of the human assembly, GRCh38.p14, is planned for Fall 2020.
The GRC remains committed to its mission to improve the human reference genome assembly, correcting errors and adding sequence to ensure it provides the best representation of the human genome to meet basic and clinical research needs. We will continue to make these updates publicly available at regular intervals in the form of patch releases, but have decided to indefinitely postpone our next coordinate-changing update (GRCh39) while we evaluate new models and sequence content for the human reference assembly currently in development.
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