Nov 30, 2020
Jul 22, 2020see all
Apr 5, 2021Zebrafish: ZG-7285
Mar 21, 2021Human: HG-803
AL021878.3 has been updated to AL021878.4, restoring representation of the CYP2D6 deletion allele. The deletion allele is represented in GRCh37 NOVEL PATCH GL383582.1, and will become an alt loci when GRCh38 is released. A GRCh37 anchor Z82192 has been added to the NOVEL patch.
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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