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 Science Learning Centres Wellcome Trust Centre for Cell-Matrix Research Wellcome Trust Centre for Gene Regulation and Expression Wellcome Trust Centre for Human Genetics Wellcome Trust Centre for Neuroimaging Wellcome Trust Centre for Stem Cell Research Wellcome Trust Sanger Institute Former Wellcome Trust Centre for the History of Medicine Planned Sainsbury Wellcome Centre for Neural Circuits and Behaviour Programmes, databases and projects Cancer Genome Project ChEMBL COSMIC cancer database DECIPHER eLife Ensembl Human Genome Project Malawi Liverpool Wellcome Trust MEROPS Pfam Rfam UK Biobank WormBase Places and facilities Diamond Light Source Wellcome Trust Genome Campus People William Castell Kay Davies Austin Smith Jeremy Farrar Michael Stratton Henry Wellcome Other Big Picture Farmcare Genome Reference Consortium The London Museums of Health & Medicine Wellcome Collection Wellcome Library Wellcome Trust Book Prize List of wealthiest charitable foundations Category