NCBI RefSeq and Ensembl/GENCODE taking MANE mainstream with v0.92!

NCBI and EBI have been hard at work on our joint MANE collaboration, providing a set of representative transcripts for human protein-coding genes that are identically annotated in the NCBI RefSeq and Ensembl/GENCODE annotation sets and exactly match the GRCh38 reference assembly. We’re pleased to announce MANE v0.92, now covering 16,865 genes or ~88% of known human protein-coding genes. In particular, we’ve … Continue reading NCBI RefSeq and Ensembl/GENCODE taking MANE mainstream with v0.92!

Human annotation release 109 for GRCh38.p12 is available in RefSeq

You can now download human annotation release 109 on FTP or explore it in the Genome Data Viewer, in the Gene database, and with BLAST. Highlights in release 109: A total of 20,203 protein-coding genes and 17,871 non-coding genes were … Continue reading

dbSNP architecture redesign supports future human variation data expansion; changes to be introduced over the next year

To continue providing efficient and timely processing, annotation, and dissemination of data, dbSNP’s architecture and process flow has been redesigned. The technical redesign prepares the database for increasing data volumes and providing timely, effective and trustworthy reference SNP results as … Continue reading

RefSeq Functional Elements now public

NCBI is pleased to announce the initial data release of RefSeq Functional Elements, a resource that provides RefSeq and Gene records for experimentally validated human and mouse non-genic functional elements. Data can be accessed via Gene, Nucleotide, BLAST, BioProject, Graphical Displays and FTP. These records include known gene regulatory elements (e.g., … Continue reading

Sequence updates in human assembly GRCh38: improving gene annotation

In an earlier blog post, we discussed how sequence updates in GRCh38, the most recent version of the human reference genome, filled in a gap in human chromosome 17 near position 21,300K and expanded the region by 500K (500,000 base … Continue reading

Sequence updates in human genome assembly GRCh38: filling in the gaps

In a previous blog post, we explained several important concepts about the human reference genome.  We presented a region of human chromosome 17 as an example of a location where the genome sequence was not fully assembled.  In this post, we … Continue reading

NCBI’s Genome Remapping Service assists in the transition to the new human genome reference assembly (GRCh38)

In late December 2013, the Genome Reference Consortium (GRC) released an updated version of the human reference genome assembly, GRCh38, and submitted these new sequences to GenBank. This is the first time in four years that a new major version of … Continue reading

Introducing the New Human Genome Assembly: GRCh38

This month marks a major event in the realm of human genome research: the release of a new assembly of the genome, GRCh38. It has been over four years since the last major release (GRCh37 in March 2009), and we … Continue reading