Genome Reference Consortium

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Genome Reference Consortium - Wikipedia

From Wikipedia, the free encyclopedia

The Genome Reference Consortium (GRC) is an international collective of academic and research institutes with expertise in genome mapping, sequencing, and informatics, formed to improve the representation of reference genomes. At the time the human reference was initially described, it was clear that some regions were recalcitrant to analysis with existing technology, leaving gaps in the known sequence. The main reason for improving the reference assemblies are that they are the cornerstones upon which all whole genome studies are based (e.g. the 1000 Genomes Project).

The GRC is a collaborative effort which interacts with various groups in the scientific community.^[1] The primary member institutes are:

The Wellcome Sanger Institute
The McDonnell Genome Institute at Washington University
The European Bioinformatics Institute
The National Center for Biotechnology Information
Zebrafish Model Organism Database
Rat Genome Database

The goal of the Consortium is to correct the small number of regions in the reference that are currently misrepresented, to close as many remaining gaps as possible and to produce alternative assemblies of structurally variant loci when necessary. Initially the focus was on the human and mouse reference genomes, but in expansions new organisms were added to the consortium. In October 2010 full maintenance and improvement of the zebrafish genome sequence was added to the GRC;^[2] in 2015, after the release of the chicken genome assembly Gallus_gallus-5.0, GRC added the chicken reference genome,^[3] and in November 2020 the rat genome assembly was added.^[4]

As of September 2019, the major assembly releases for human, mouse, zebrafish, and chicken are GRCh38, GRCm38, GRCz11, and GRCg6a, respectively. Major assembly releases do not follow a fixed cycle; however, there are minor assembly updates in the form of genome patches which either correct errors in the assembly or add additional alternate loci.^[5] These assemblies are represented in various genome browsers and databases including Ensembl, those in NCBI and UCSC Genome Browser.

Notable staff

Deanna M. Church, bioinformatics and genomics researcher. ^[6]
Richard Durbin, computational biologist at the University of Cambridge.^[7]
Tim Hubbard, computational biologist at the King's College London and Head of Genome Analysis in Genomics England.^[8]

External links

Genome Reference Consortium

Institute Homepages

Genome assemblies

Chicken genome assemblies Gallus_gallus-5.0 and GRCg6a/galGal6
Human genome assembly GRCh38/hg38
Mouse genome assembly GRCm38
Zebrafish genome assembly GRCz11/danRer11

References

^ "GRC and Collaborators". Genome Reference Consortium. Retrieved 19 October 2012.
^ Genome Reference Consortium (13 October 2010). "Zebrafish genome joins GRC". GRC Blog (GenomeRef). Retrieved 19 October 2012.
^ Genome Reference Consortium (18 April 2016). "GenomeRef: Chicken assembly curation at GRC". GRC Blog (GenomeRef). Retrieved 16 August 2022.
^ Genome Reference Consortium (30 November 2020). "GenomeRef: A New Rat Genome Assembly Sparks Membership of Rat and RGD in the Genome Research Consortium". GRC Blog (GenomeRef). Retrieved 16 August 2022.
^ Church, DM; Schneider, VA; Graves, T; Auger, K; Cunningham, F; Bouk, N; Chen, HC; Agarwala, R; McLaren, WM; Ritchie, GR; Albracht, D; Kremitzki, M; Rock, S; Kotkiewicz, H; Kremitzki, C; Wollam, A; Trani, L; Fulton, L; Fulton, R; Matthews, L; Whitehead, S; Chow, W; Torrance, J; Dunn, M; Harden, G; Threadgold, G; Wood, J; Collins, J; Heath, P; Griffiths, G; Pelan, S; Grafham, D; Eichler, EE; Weinstock, G; Mardis, ER; Wilson, RK; Howe, K; Flicek, P; Hubbard, T (July 2011). "Modernizing reference genome assemblies". PLOS Biology. 9 (7): e1001091. doi:10.1371/journal.pbio.1001091. PMC 3130012. PMID 21750661.
^ "NLM In Focus: Meet NCBI's Deanna Church, Genome Finisher". Infocus.nlm.nih.gov. Archived from the original on 3 July 2013. Retrieved 6 December 2014.
^ Durbin, Richard (27 September 2017). "Professor Richard Durbin, FRS". www.gen.cam.ac.uk. Retrieved 19 August 2022.
^ "Professor Tim Hubbard". www.kcl.ac.uk. Retrieved 19 August 2022.

Wellcome Trust

Centres and institutes

Current	Francis Crick Institute Gurdon Institute Sainsbury Wellcome Centre for Neural Circuits and Behaviour Science Learning Centres WTC for Cell-Matrix Research WTC for Gene Regulation and Expression WTC for Human Genetics WTC for Mitochondrial Research WTC for Molecular Parasitology WTC for Neuroimaging WTC for Stem Cell Research Wellcome Sanger Institute
Former	Wellcome Trust Centre for the History of Medicine Wellcome Research Laboratories