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 genome A reference genome (also known as a reference assembly) is a digital nucleic acid sequence database, assembled by scientists as a representative example of the set of genes in one idealized individual organism of a species. As they are assemble ...

s. 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 1000 Genomes Project (abbreviated as 1KGP), launched in January 2008, was an international research effort to establish by far the most detailed catalogue of human genetic variation. Scientists planned to sequence the genomes of at least one th ...

). The GRC is a collaborative effort which interacts with various groups in the scientific community. The primary member institutes are: * The

Wellcome Sanger Institute The Wellcome Sanger Institute, previously known as The Sanger Centre and Wellcome Trust Sanger Institute, is a non-profit British genomics and genetics research institute, primarily funded by the Wellcome Trust. It is located on the Wellcome Ge ...

* The

McDonnell Genome Institute McDonnell Genome Institute (The Elizabeth H. and James S. McDonnell III Genome Institute) at Washington University in St. Louis, Missouri, is one of three Nih, NIH funded large-scale sequencing centers in the United States. Affiliated with Washing ...

at Washington University * The

European Bioinformatics Institute The European Bioinformatics Institute (EMBL-EBI) is an Intergovernmental Organization (IGO) which, as part of the European Molecular Biology Laboratory (EMBL) family, focuses on research and services in bioinformatics. It is located on the Well ...

* The

National Center for Biotechnology Information The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health (NIH). It is approved and funded by the government of the United States. The ...

* 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 Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, ...

and

mouse A mouse ( : mice) is a small rodent. Characteristically, mice are known to have a pointed snout, small rounded ears, a body-length scaly tail, and a high breeding rate. The best known mouse species is the common house mouse (''Mus musculus' ...

reference genomes, but in expansions new organisms were added to the consortium. In October 2010 full maintenance and improvement of the

zebrafish The zebrafish (''Danio rerio'') is a freshwater fish belonging to the minnow family ( Cyprinidae) of the order Cypriniformes. Native to South Asia, it is a popular aquarium fish, frequently sold under the trade name zebra danio (and thus often ...

genome sequence was added to the GRC; in 2015, after the release of the

chicken The chicken (''Gallus gallus domesticus'') is a domesticated junglefowl species, with attributes of wild species such as the grey and the Ceylon junglefowl that are originally from Southeastern Asia. Rooster or cock is a term for an adult m ...

genome assembly Gallus_gallus-5.0, GRC added the chicken reference genome, and in November 2020 the rat genome assembly was added. 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. These assemblies are represented in various genome browsers and databases including

Ensembl Ensembl genome database project is a scientific project at the European Bioinformatics Institute, which provides a centralized resource for geneticists, molecular biologists and other researchers studying the genomes of our own species and other v ...

, those in

NCBI The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health (NIH). It is approved and funded by the government of the United States. The ...

and

UCSC Genome Browser The UCSC Genome Browser is an online and downloadable genome browser hosted by the University of California, Santa Cruz (UCSC). It is an interactive website offering access to genome sequence data from a variety of vertebrate and invertebrate spec ...

Notable staff

* Deanna M. Church, bioinformatics and genomics researcher. * Richard Durbin, computational biologist at the

University of Cambridge , mottoeng = Literal: From here, light and sacred draughts. Non literal: From this place, we gain enlightenment and precious knowledge. , established = , other_name = The Chancellor, Masters and Schola ...

. *

Tim Hubbard Timothy John Phillip Hubbard is a Professor of Bioinformatics at King's College London, Head of Genome Analysis at Genomics England and Honorary Faculty at the Wellcome Trust Sanger Institute in Cambridge, UK. Education Hubbard was educated at the ...

, computational biologist at the

King's College London King's College London (informally King's or KCL) is a public research university located in London, England. King's was established by royal charter in 1829 under the patronage of King George IV and the Duke of Wellington. In 1836, King's ...

and Head of Genome Analysis in

Genomics England Genomics England is a British company set up and owned by the United Kingdom Department of Health and Social Care to run the 100,000 Genomes Project. The project aimed in 2014 to sequence 100,000 genomes from NHS patients with a rare disease an ...

References

{{Wellcome Trust Genome projects International scientific organizations Science and technology in Cambridgeshire South Cambridgeshire District Wellcome Trust

Notable staff

External links

References