The GRC announces the public release of GRCh38, the latest version of the human reference genome assembly. This represents the first major assembly update since 2009, and introduces changes to chromosome coordinates. The GRC would like to thank the many
individuals and groups that have provided helpful feedback and shared data, often ahead of publication, in efforts to improve the reference assembly. Such interactions help ensure the reference assembly is truly a community resource.
Users can download the latest version of the assembly from the GenBank FTP site:
ftp://ftp.ncbi.nlm.nih.gov/genbank/genomes/Eukaryotes/vertebrates_mammals/Homo_sapiens/GRCh38/
The GRC does not provide annotation for the assembly. The assembly will be picked up from this FTP site for annotation by the major browsers (
UCSC,
Ensembl and
NCBI), who will make it available on their websites in the upcoming weeks and months.
GRCh38 highlights
Mitochondrial genome
MITOMAP, the organization responsible for management human mitochondrial sequences, has kindly allowed the GRC to include the mitochondrial reference sequence with GRCh38. As in GRCh37, the current MT reference sequence is the Revised Cambridge Reference Sequence (rCRS), represented by GenBank accession number
J01415.2 and RefSeq accession number
NC_012920.1.
Sequence representation for centromeres
In previous reference assembly versions, the centromeres were represented by large, megabase-sized, gaps (N's in the assembly sequence). In GRCh38, these gaps are replaced by sequences derived from the reads generated during the sequencing of the
HuRef genome. These sequences were used to create centromere models, as described in
Miga et al., 2013, that provide the approximate repeat number and order for each centromere in the genome. These model centromere sequences are anticipated to be useful for read mapping and variation studies. Be on the lookout for upcoming GRC blogs with more information about these centromeres.
General assembly updates
Large scale studies of human variation, such as the
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