Tag: Genome Data Viewer (GDV)

NCBI on YouTube: ClinVar API, check data with GaPTools, get genetic context with Sequence Viewer

Every so often, we gather our most recent videos in one post on the blog, for your convenience. Scroll down – and don’t forget to subscribe to our channel!

Introducing GaPTools for dbGaP Submitters

This video introduces new standalone software called GaPTools, which you can use to check your data before submitting to dbGaP. GaPTools uses the same preliminary validation checks as the dbGaP submission portal.

Continue reading “NCBI on YouTube: ClinVar API, check data with GaPTools, get genetic context with Sequence Viewer”

Gene filtering in NCBI Sequence Viewer

Gene filtering in NCBI Sequence Viewer

We are excited to announce new track display options for gene annotation tracks in the NCBI Genome Data Viewer genome browser and other instances of the NCBI Sequence Viewer!

Now, you can simplify gene annotation tracks to show only the genes and transcripts that you care about most.  For instance, you can choose to hide non-coding transcripts, including pseudogenes, so that only protein-coding transcript variants are shown in your view. You can also hide any transcript models predicted using NCBI’s Gnomon algorithm. Learn more:

Continue reading “Gene filtering in NCBI Sequence Viewer”

Announcing the RefSeq annotation of sheep ARS-UI_Ramb_v2.0!

Announcing the RefSeq annotation of sheep ARS-UI_Ramb_v2.0!

The new reference assembly for sheep is now annotated! Assembly ARS-UI_Ramb_v2.0 is made of 142 scaffolds, a drop from 2,640 in the 2017 assembly Oar_rambouillet_v1.0. With a contig N50 of 43 Mb, ARS-UI_Ramb_v2.0 is 15 times more contiguous than the first assembly of the Rambouillet breed.

Annotation Release 104 (AR 104) of ARS-UI_Ramb_v2.0 reflects these improvements. Nearly 200 more coding genes have a 1:1 ortholog in the human genome than in the annotation of Oar_rambouillet_v1.0 (AR 103). The number of coding models annotated as partial is down 35% from 165 to 107, and the number of coding models labeled low quality due to suspected indels or base substitutions in the underlying genomic sequence decreased by 51% (1646 to 796). Based on BUSCO analysis, 99.1% of the models (cetartiodactyla_odb10) are complete in AR 104 versus 98.8% in AR 103. Details of this annotation, including statistics on the annotation products, the input data used in the pipeline and intermediate alignment results, can be found here. Continue reading “Announcing the RefSeq annotation of sheep ARS-UI_Ramb_v2.0!”

Introducing the new NCBI Datasets Genomes page

The updated NCBI Datasets Genomes page now has genome data for all domains of life, including bacterial and viral genomes.

The genomes table (Figure 1) now offers filters for:

  • Reference genomes — switch it on to only show reference or representative genomes
  • Annotated — switch it on to only show annotated genomes
  • Assembly level — use the assembly level slider to select higher-quality genomes
  • Year released — use the slider to limit your results to recent genomes

In addition, the new Actions column connects you to NCBI’s Genome Data Viewer, BLAST, and Assembly. The Text filter box lets you search by the name of the assembly, species/infraspecies, or submitter.Figure 1. The new Datasets Genomes page with primate assemblies showing the STATUS switches (reference genomes, annotated); expanded filters section with ASSEMBLY LEVEL and YEAR RELEASED sliding selectors; and the Actions column menu with access to Assembly details, BLAST, the Genome Data Viewer, and Download options. Continue reading “Introducing the new NCBI Datasets Genomes page”

June 2 Webinar: Quickly upload and view your own data in genomic context at NCBI

June 2 Webinar: Quickly upload and view your own data in genomic context at NCBI

Join us on June 2, 2021 at 12PM eastern time to learn how to how to upload and display your own genomic data in the context of annotated genome assemblies. You will use the Genome Data Viewer and the Sequence viewer to visualize your own uploaded data (indexed BAM, VCF, BED, wig, GFF formats), data from public track hubs, and your BLAST and Primer-BLAST results. You will also learn to take advantage of features of the viewers including optimizing display settings, sharing a view with collaborators, exporting images, and downloading genes or other features in the view.

  • Date and time: Wed, June 2, 2021 12:00 PM – 12:45 PM EDT
  • Register

After registering, you will receive a confirmation email with information about attending the webinar. A few days after the live presentation, you can view the recording on the NCBI webinars playlist on the NLM YouTube channel. You can learn about future webinars on the Webinars and Courses page.

Vertebrate Genome Project genome assemblies annotated by NCBI

Vertebrate Genome Project genome assemblies annotated by NCBI

NCBI is an active partner of the Vertebrate Genomes Project (VGP), who recently published a series of papers on the initial results of their efforts to sequence all 70,000 vertebrate species.  See the VGP press release  for more details. To date, this project has submitted over 130 diploid chromosome-level assemblies to NCBI’s GenBank  and the European Nucleotide Archive.  NCBI has annotated 94 of the VGP assemblies from 85 species using the NCBI Eukaryotic Genome Annotation Pipeline.

These sequence and annotation data are available through NCBI web resources including Gene, Assembly, Nucleotide, Protein, and Datasets and are included in the GenBank and RefSeq releases. You can browse the assemblies in the Genome Data Viewer  and  download metadata, sequence, and annotation data for the latest assemblies in the VGP BioProject using the NCBI Datasets command-line tools  as shown below. Continue reading “Vertebrate Genome Project genome assemblies annotated by NCBI”

NCBI on YouTube: Tips for My Bibliography, Genome Data Viewer and more

Missed our latest YouTube videos? Scroll down to see what we’ve been up to.

Add Preprint Citations in My Bibliography

The National Institutes of Health encourages investigators to post preprints to public repositories in order to speed the dissemination and enhance the rigor of their work. This video demonstrates how to add preprint citations to My Bibliography.

Continue reading “NCBI on YouTube: Tips for My Bibliography, Genome Data Viewer and more”

Announcing the RefSeq annotation of rat mRatBN7.2!

Announcing the RefSeq annotation of rat mRatBN7.2!

NCBI RefSeq has finished its initial annotation of the new rat reference assembly, mRatBN7.2, recently released by the Darwin Tree of Life Project at the Wellcome Sanger Institute. This is the first coordinate-changing update to the rat reference since the 2014 release of Rnor_6.0 from the Rat Genome Sequencing Consortium and brings the rat assembly into the modern age with a nearly 300x increase in contig N50 and 9x increase in scaffold N50 lengths. It’s a major improvement!

Continue reading “Announcing the RefSeq annotation of rat mRatBN7.2!”

View intron feature evidence in the Genome Data Viewer and Sequence Viewer

Are you a researcher who works on gene biology and are interested in alternative splice patterns in your gene or genes of interest?  If so, be sure to explore the intron feature evidence available in graphics views of genome assemblies annotated by NCBI. You can view the NCBI evidence used for calling splice variant for genes, add other intron feature evidence tracks, and use new display and filter options that make it easier to interpret the data .

Figure 1. Graphical view of the monoamine oxidase gene (MAOA, MOAB) region on the human X  chromosome showing intron features tracks (‘RNA-seq intron features, aggregate’ and ‘Intropolis RNA-Seq intron features’). Mousing-over an intron feature activates a tooltip that shows details such as the number of reads with the splice site, the location on the chromosome, the length of the intron and the donor and acceptor bases at the splice site. The Intropolis track was added through the search feature of the Configure Tracks menu and configured (bottom menu) so that the features were sorted by strand and filtered so that only features with greater than 500 reads appear.

Continue reading “View intron feature evidence in the Genome Data Viewer and Sequence Viewer”

Improved chromosome searching in Genome Browsers

Are you interested in searching for a chromosomal region in a genome, but don’t know how to write the correct query?  The good news is that the NCBI Genome Data Viewer (GDV) now supports a much wider array of search options. Some examples are listed below:

  • chr1:1,500,000-2,000,000
  • chr2: 1.5M – 2M
  • chr2: 1.5M-2,540.2K
  • 2:1,500,000-2,000,000
  • 3: 21.33M – 22.01M
  • 3: 21.335M..21.337M
  • chr1:1,500,000 / 200
  • chr1:101,500,200
  • 1:101,500,200
  • 1:1,500K/0.5K
  • chr5
  • 10

You can use any of these queries or the ones described below for assembly aliases either on the GDV landing page or in the GDV search box (Figure 1).

Figure 1. The search boxes on the GDV landing page (left) and within the GDV graphical interface (right) showing queries with chromosome aliases for the domestic cat. Continue reading “Improved chromosome searching in Genome Browsers”