Genome Reference Consortium

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Human whole genome

== Genome Reference Consortium ==

The Genome Reference Consortium (GRC) is an international collaboration that aims to improve and maintain the reference assembly of the human genome, as well as the genomes of other key model organisms. The GRC was established to address the limitations and gaps in the initial Human Genome Project assembly and to ensure that the reference genome remains an accurate and comprehensive representation of the human genome.

History[edit | edit source]

The GRC was formed in 2007 by a group of leading genome sequencing centers, including the Wellcome Sanger Institute, the European Bioinformatics Institute (EBI), the National Center for Biotechnology Information (NCBI), and the Genome Institute at Washington University. The consortium was created to provide a coordinated effort to improve the quality and accuracy of the reference genome assemblies.

Objectives[edit | edit source]

The primary objectives of the GRC are to:

  • Improve the accuracy and completeness of the reference genome assemblies.
  • Correct errors and fill gaps in the existing assemblies.
  • Incorporate new data and technologies to enhance the reference genomes.
  • Provide regular updates and releases of the reference genomes.
  • Ensure that the reference genomes are accessible and usable by the scientific community.

Reference Genome Assemblies[edit | edit source]

The GRC is responsible for maintaining and updating the reference assemblies for several key organisms, including:

The reference genome assemblies are regularly updated to incorporate new data and correct any identified errors. These updates are released as new versions, with each version providing an improved representation of the genome.

Human Genome Reference[edit | edit source]

The human genome reference, known as GRCh38, is the most recent version of the human reference genome assembly maintained by the GRC. GRCh38 was released in December 2013 and includes significant improvements over the previous version, GRCh37. These improvements include the correction of sequencing errors, the addition of new sequences, and the resolution of complex genomic regions.

Tools and Resources[edit | edit source]

The GRC provides a variety of tools and resources to facilitate the use and analysis of the reference genomes. These include:

  • Genome Browsers: Interactive tools for visualizing and exploring the reference genomes.
  • Annotations: Detailed information about the genes and other features within the reference genomes.
  • Data Access: Downloadable files and datasets for use in research and analysis.

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Contributors: Prab R. Tumpati, MD