Genome Reference Consortium

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 closure with existing technology. 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] however the primary member institutes are:

• The Wellcome Trust Sanger Institute
• The Genome Institute at Washington University
• The European Bioinformatics Institute
• The National Center for Biotechnology Information

Initially the focus lies with the Human and the Mouse reference genomes, but in mid-late 2010 full maintenance and improvement of the Zebrafish genome sequence was also added to the GRC.^[2] 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.

As of June 2015, the major assembly release for human, mouse and zebrafish are GRCh38, GRCm38 and GRCz10 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.^[3] These assemblies are represented in various genome browsers and databases including Ensembl, those in NCBI and UCSC Genome Browser.

External links

• Genome Reference Consortium

Institute Homepages

• The European Bioinformatics Institute
• The Genome Institute at Washington University
• The National Center for Biotechnology Information
• The Wellcome Trust Sanger Institute

References

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 Trust Sanger Institute Former Wellcome Trust Centre for the History of Medicine Wellcome Research Laboratories
Projects and facilities	1000 Genomes Project Big Picture Cambridge Biomedical Campus Cancer Genome Project ChEMBL COSMIC cancer database DECIPHER Diamond Light Source eLife Ensembl Farmcare Genome Reference Consortium Human Genome Project Malawi Liverpool Wellcome Trust MEROPS Pfam Rfam UK Biobank Wellcome Collection Wellcome Genome Campus Wellcome Library WormBase
Board of Governors	Tobias Bonhoeffer Alan Brown Damon Buffini William Burns Kay Davies Michael Ferguson Bryan Grenfell Richard Hynes Anne Johnson Eliza Manningham-Buller Peter Rigby
Executive Board	Jeremy Farrar Stephen Caddick Simon Chaplin Tim Livett Clare Matterson Ted Smith Danny Truell
Former directors	Peter Williams (1965–1991) Bridget Ogilvie (1991–1998) Michael Dexter (1998–2008) Mark Walport (2003–2013)
Other key people	William Castell Dominic Cadbury Harold Cook Oliver Franks Roger Gibbs Henry Dale Roy Porter David Steel John Sulston Henry Wellcome
Awards and fellowships	Capital Awards Collaborative Awards in Science Investigator Awards in Science Institutional Strategic Support Fund Science Strategic Award Sir Henry Dale Fellowship Sir Henry Wellcome Postdoctoral Fellowship Wellcome Book Prize Wellcome Image Awards Wellcome Trust Centre Wellcome Trust Principal Research Fellow Wellcome Trust Senior Research Fellow
Category