Author: Editor

Genome Reference Consortium News

News about Human and Mouse projects from the Genome Reference Consortium (GRC).

• GRCr8: A new rat reference assembly is released! February 2, 2024
  GRCr8 (GCA_036323735.1), the latest version of the rat reference genome assembly, is now available. GRCr8 is an evolution of mRatBN7.2 (GCA_015227675.2), the Vertebrate Genomes Project-generated rat assembly that was the first reference for this species to be adopted by the GRC for stewardship. mRatBN7.2 was an assembly of a Brown Norway (BN) male rat from t […]
• GRCh38.p14 is now released! May 9, 2022
  GRCh38.p14 (GCA_000001405.29/GCF_000001405.40), the latest update to the human reference assembly, has been released! It adds 69 new patch scaffolds, 51 of which are FIX patches that update sequences on the GRCh38 reference chromosomes or alternate loci, while 18 are NOVEL patches, providing new alternate representations for complex genomic regions that are […]
• One of these things doesn't belong: efforts to exclude problematic sequences in GRCh38 July 21, 2021
  Since the release of GRCh38, the GRC has received a number of user reports alerting us to a potential false duplication involving chr 21p and 21q. Users noted that reads were aligning to both regions in GRCh38, but not GRCh37/hg19, resulting in a decreased mapping score and difficulties in variant calling throughout. Additionally, user analyses involving Mul […]
• A New Rat Genome Assembly Sparks Membership of Rat and RGD in the Genome Research Consortium November 30, 2020
  The Rat Genome Database RGD is very pleased to announce the release of mRatBN7.1, the new rat genome assembly! The mRatBN7 assembly, generated by the Darwin Tree of Life Project at the Wellcome Sanger Institute, is significantly improved over the Rnor6.0 and previous assemblies. mRatBN7 was derived from a male BN/NHsdMcwi rat that is a direct descendent from […]
• GRCm39: the new mouse reference genome assembly July 22, 2020
  The GRC is pleased to announce the release of GRCm39 (GCA_000001635.9), the latest version of the mouse reference genome assembly. GRCm39 is the first coordinate-changing update to the mouse reference since the 2012 release of GRCm38. More than 400 reported issues were resolved in the production of the new assembly, which also incorporates the sequence edits […]
• ZFIN and the GRC: Supporting the zebrafish reference genome assembly June 8, 2020
  ZFIN is a member of The Genome Reference Consortium (GRC), an international collaboration consisting of NCBI, the Wellcome Trust Sanger Institute, the McDonnell Genome Institute at Washington University, the European Bioinformatics Institute (EBI) and ZFIN. This consortium is tasked with ensuring that the reference assemblies for human, mouse, zebrafish and […]
• Readying the release of GRCm39 May 23, 2019
  GRCm38, the current mouse reference assembly, whose chromosomes represent the C57BL/6J strain, supports a broad range of research activities. Despite being one of the highest quality mammalian genome assemblies ever produced, it still has more than 600 gaps and includes sub-optimal representations for some genes. To address these issues and provide the murin […]
• Shining a light on human acrocentric p-arms March 26, 2019
  The GRC is excited to announce that representations for the p-arms of the human acrocentric chromosomes can now be found in the GRCh38.p13 patch update of the reference genome, thanks to work done in Brian McStay's lab. These sequences are included on the following scaffolds: ML143366.1, ML143367.1, ML143372.1, ML143377.1, and ML143380.1. The p-arms of […]
• GRCh38.p13 has been released March 20, 2019
  The GRC is pleased to announce that GRCh38.p13 is now available! This release adds 45 new scaffolds: 43 FIX patches and 2 NOVEL patches. The FIX patch scaffolds provide assembly corrections while the NOVEL patch scaffolds deliver new alternate sequence representations. A valuable contribution to this patch release comes in the addition of the Nucleolus Organ […]
• GRCg6: Curation of the chicken reference genome assembly transfers to the GRC February 23, 2018
  The GRC announces the release of the latest chicken reference genome assembly, GRCg6. The chicken reference assembly defines a standard upon which other avian whole genome studies are based. Providing the best representation of the chicken genome is essential for facilitating continued progress in understanding and improving human health as this species serv […]
• New technique closes gaps in GRCm38.p6 February 9, 2018
  Ongoing efforts to close gaps and to correct clone problems remaining in the GRCm38 mouse reference assembly have proved difficult. The available clone library resources have been exhausted, and the remaining gaps are recalcitrant to cloning, with either no clones available or gap-spanning clones deleted for the expected genomic sequence. The GRC has previou […]
• GRCh38.p11: Clinically Relevant Updates to SLC39A4 September 13, 2017
  The GRCh38.p11 patch release includes the fix patch scaffold KZ208914.1/NW_018654716.1 that updates two bases in SLC39A4, a change prompted by user request and that has implications for clinically-relevant variant analyses of this gene. This GRCh38 fix patch restores the gene to the same representation found in GRCh37. SLC39A4, solute carrier family 39 membe […]
• GRCh38.p11: Update to GCNT2 July 11, 2017
  The GRC prioritizes curation efforts that improve gene representation in the human reference genome assembly. In some cases, such curation takes the form of base-pair level edits. The recent GRCh38.p11 patch release includes a new, curated, representation for the GCNT2 gene. The representation of the GCNT2 gene in the GRCh38 reference assembly contains the […]
• Improvements in the 5S rRNA gene cluster on chromosome 1q42.11-q42.13 June 28, 2017
  Sequence updates that improve gene representation in the human reference genome assembly are priorities for the GRC. The recent GRCh38.p11 patch release includes a newly curated representation of the 5S RNA gene cluster (RN5S1@) located on chromosome 1q42.11-q42.13. The 5S ribosomal RNA (rRNA) is a component of the large subunit of the ribosome in all organi […]
• GRCz11 – the latest zebrafish reference genome assembly May 23, 2017
  After 2.5 years of assembly curation, the GRC is proud to present the new zebrafish reference genome assembly, GRCz11. This latest assembly has been refined by the addition of nearly 1000 finished clone sequences and by the resolution of more than 400 assembly issues. This resulted in a significant reduction in scaffold numbers (3399 to 1905) and increase in […]