This full release incorporates genomic, transcript, and protein data available as of March 1, 2021, and contains 269,975,565 records, including 197,232,209 proteins, 36,514,168 RNAs, and sequences from 108,257 organisms. The release is provided in several directories as a complete dataset and also as divided by logical groupings.
Tag: Human genome
This full release incorporates genomic, transcript, and protein data available as of January 4, 2021, and contains 262,714,372 records, including 191,411,721 proteins, 35,353,412 RNAs, and sequences from 106,581 organisms. The release is provided in several directories as a complete dataset and also as divided by logical groupings.
Updated human genome Annotation Release 109.20201120
Updated Annotation Release 109.20201120 is an update of NCBI Homo sapiens Annotation Release 109.
The annotation report for 109.20201120 is available here. The annotation products are available in the sequence databases and on the FTP site. Continue reading “RefSeq release 204 is now available”
- Anarrhichthys ocellatus (wolf-eel)
- Apis florea (little honeybee)
- Contarinia nasturtii (swede midge)
- Cucumis sativus (cucumber)
- Galleria mellonella (greater wax moth)
- Homo sapiens (human)
- Nasonia vitripennis (jewel wasp)
- Oncorhynchus kisutch (coho salmon)
- Oreochromis aureus (blue tilapia)
- Piliocolobus tephrosceles (Ugandan red Colobus)
- Sarcophilus harrisii (Tasmanian devil)
- Xenopus tropicalis (tropical clawed frog)
See more details on the Eukaryotic RefSeq Genome Annotation Status page.
There’s a new RefSeq annotation available for the human genome, and it’s quite an update!
About the release
Annotation release 109.20190607 is the first release of our new bimonthly annotation schedule as announced in a previous post. The annotated sequences are the latest sequences for the GRCh38, patch 13 assembly, GRCh38.p13 (GCF_000001405.39). The chromosome backbone sequences remain the same, but we’ve added 45 patch sequences representing novel and improved sequences that the Genome Reference Consortium will incorporate into the primary assembly in the future. The new annotation places the latest curated RefSeq transcripts and functional elements on the genome but keeps the same model dataset as in annotation release 109 except when the models have been replaced by curated RefSeqs or other review. We are also flagging MANE and other RefSeq Select transcripts. Continue reading for more details on these improvements below. You can download the updated annotation here!
NCBI will be updating the human genome RefSeq annotation more frequently to incorporate improvements made to genes and transcripts by RefSeq curation experts. Faster updates will allow us to include the latest datasets.
In the past, we’ve produced a full re-annotation of the human genome about once a year. The last full annotation, Homo sapiens Annotation Release 109, was in March 2018. A full annotation is produced by two main processes:
Highlights in release 109:
- A total of 20,203 protein-coding genes and 17,871 non-coding genes were annotated.
- The number of annotated curated transcripts increased by 17% and genes with two or more curated alternative variants increased by 8%.
- The annotation includes 6,862 features and 2,075 GeneIDs for non-genic functional elements, such as regulatory regions and known structural elements. For example, see the opsin locus control region (OPSIN-LCR).
The 2018 Nucleic Acids Research database issue features several papers from NCBI staff that cover the status and future of databases including CCDS, ClinVar, GenBank and RefSeq. These papers are also available on PubMed. To read an article, click on the PMID number listed below.
To continue providing efficient and timely processing, annotation, and dissemination of data, dbSNP’s architecture and process flow have been redesigned. The technical redesign prepares the database for increasing data volumes and providing timely, effective and trustworthy reference SNP results as submission rates continue to increase.
Highlights of the new system include:
- Use of data objects instead of a relational database
- Improved algorithms for clustering data into unique Reference SNPs
- Automation of the entire process to provide timely releases
- Guaranteed data consistency across dbSNP data accessed using web-based products or downloaded content, such as VCF and FTP files
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.
A common task facing geneticists is to assay for sequence changes at particular locations in genes. These assays are often looking for changes in the coding exon of genes, and the target sequences are typically amplified using PCR from genomic DNA using a pair of specific primers. In this article, we will show you how to use NCBI Reference Sequences and Primer-BLAST, NCBI’s primer designer and specificity checker, to design a pair of primers that will amplify a single exon (exon 15) of the human breast cancer 1 (BRCA1) gene.
Here are the steps to follow to design primers to amplify exon 15 from human BRCA1: