Genome Reference Consortium (original) (raw)

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 released GRCh38.p14, a non-coordinate changing update to the human reference assembly in May 2022. See our blog post for more information.

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 from ongoing efforts to better represent the genetic diversity of the human pangenome, including those of the Telemore-to-Telomere Consortium and the Human Pangenome Reference Consortium.

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