Data
Human

Genome Reference Consortium

The GRC aims to ensure that the human, mouse and zebrafish reference assemblies are biologically relevant by closing gaps, fixing errors and representing complex variation.

The Genome Reference Consortium (GRC) was founded in 2007 to improve the reference genome assemblies of human, mouse and zebrafish. One of the first tasks was to modernise the assembly model to make sure that complex variation within a species can be captured and represented. The GRC also guarantees INSDC submission and long term maintenance of all produced assemblies. All this is achieved through genome analysis and additional sequencing and collection of other data, for instance optical mapping. We collaborate with major players in the respective communties to obtain additional data helping us to identify and correct issues in the existing genome assemblies.

Data

The GRC genome annotations are available as a trackhub at http://ngs.sanger.ac.uk/production/grit/track_hub/hub.txt and can also be viewed in the genome evalution browser gEVAL. We provide a blog and an announcement list. You can report genome issues for review, or search regions under review, e.g. here.

Consortium

The GRC is a collaboration between the The Wellcome Sanger Institute, represented by the Genome Reference Informatics Team, the McDonnell Genome Institute at Washington University (MGI), the European Bioinformatics Institute (EBI) and the The National Center for Biotechnology Information (NCBI). The NCBI hosts the GRC homepages.

Downloads

Human sequence sets for alignment pipelines Download

FASTA format sequences for a genome assembly in a package convenient for use by various Next Generation Sequence read alignment pipelines. The sequence names, sequence order, and format of the sequence definition lines, were developed in consultation with several developers and major users of alignment pipelines and include masking of e.g. the PAR region and the EBV sequence. Index files generated by BWA, Samtools and Bowtie are also provided. The set is available with (full assembly) and without (primary assembly only) alternate locus sequences.

GRC trackhub Download

http://ngs.sanger.ac.uk/production/grit/track_hub/hub.txt

Human reference assembly GRCh38, major release Download
Human reference assembly GRCh38.p11, minor release Download
Mouse reference assembly GRCm38, major release Download
Mouse reference assembly GRCm38.p5 , minor release Download
Zebrafish reference assembly GRCz11, major release Download

Data use

This sequencing centre plans on publishing the completed and annotated sequences in a peer-reviewed journal as soon as possible. Permission of the principal investigator should be obtained before publishing analyses of the sequence/open reading frames/genes on a chromosome or genome scale. See our data sharing policy.