New BLAST results for specialized searches now available for testing


As you probably know,  BLAST has been offering a new results page as an option for standard BLAST for you to test and provide feedback since April. See our post from earlier this spring for more details. We have just added new results pages (Figure 1) for the following four specialized BLAST services for you to test.

  1. PSI-BLAST
  2. PHI-BLAST
  3. DELTA-BLAST
  4. Align two or more sequences

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50,000 new clinically relevant structural variation calls in dbVar


We’ve expanded the catalog of clinically relevant structural variants (SV) in dbVar by adding 57,520 ClinVar records.  You can access the newly added data through study nstd102.

The updated collection includes:

  • 20,000 new SVs, and more than 37,000 copy number variants (CNV) observed in ClinGen laboratories during routine cytogenomic laboratory testing that were previously accessioned separately at dbVar
  • 15,000 SVs asserted as ‘Pathogenic’ or ‘Likely pathogenic’ for thousands of clinical genetic disorders including breast, ovarian, and colon cancers; hypercholesterolemia; schizophrenia; Duchenne Muscular Dystrophy; autism spectrum disorders; and many others
  • links to more than 1,600 related PubMed articles and thousands of related data records in ClinVar, OMIM, GeneReviews, MedGen, MeSH, etc.

You can browse  dbVar studies on the web or download the data.  We provide dbVar data  in a number of standard formats (VCF, GVF, and TSV) mapped to assemblies GRCh38, GRCh37, and NCBI36 allowing you perform analysis using standard tools and integrate the data into your bioinformatic workflows.

Visit our Walkthrough page to learn how to use these new dbVar data to help interpret structural variation in your favorite gene or genomic region.

Presentation on NCBI’s genome browser at Rocky Mountain Genomics Hackcon


On June 18, 2019, NCBI’s Sanjida Rangwala will demonstrate the rich data visualization capabilities of NCBI’s genome browser at a conference that is part of the Rocky Mountain Genomics Hackcon.  As mentioned in a previous post, NCBI staff will also participate in an NCBI-style Hackathon  as part of the larger event.  The genome browser presentation and demonstration will show you how to create visuals that provide insights and show connections among genes, transcripts, variation,  epigenomics and GWAS data from NCBI sources. You will also see  how you can upload your own data and embed NCBI viewers on your own pages.