Category Archives: Variation Viewer
NCBI genome browsers: search and you will find!
If you’ve ever tried searching for a genomic location in NCBI’s Genome Data Viewer (GDV) or Variation Viewer and found that your search term didn’t work, it’s time to try again! We recently expanded support for searches in our genome browsers using non-NCBI identifiers such as HGVS patterns (e.g. NM_001318787.2:c.2258G>A) and Ensembl IDs. You can also search by chromosome coordinates, cytogenetic band, assembly scaffold/component, disease/phenotype, dbSNP … Continue reading NCBI genome browsers: search and you will find!
ClinVar annotations now available in NCBI Genome Browsers
Do you need to know which of the many NCBI dbSNP variants annotated near your region of interest are likely to be functionally or clinically significant? Figure it out with the track labelled ‘ClinVar variants with precise endpoints’, available on sequence display viewers at NCBI, including the Genome Data Viewer (GDV) and Variation Viewer! This track shows variation … Continue reading ClinVar annotations now available in NCBI Genome Browsers
Posted by in ClinVar, Genome Data Viewer (GDV), Quick Tips, Variation Viewer
dbSNP celebrates 20 years!
dbSNP was established in August 1999 as a collaboration between NCBI and the National Human Genome Research Institute (NHGRI) as a database of small scale nucleotide variants. The database includes both common and rare single-base nucleotide variation (SNV), short (=< 50bp) deletion/insertion … Continue reading
Posted by in dbSNP, RefSNP, Variation, Variation Viewer, What's New
November 14 Webinar: Variant Interpretation using NCBI Resources
Next Wednesday, November 14, 2018, NCBI staff will show you how to use NCBI’s genome browsers and other resources to interpret variants. The graphical displays of Genome Data Viewer (GDV) and Variation Viewer offer an interactive experience that allows you … Continue reading
Posted by in dbSNP, Gene, Genome Browser, Variation, Variation Viewer, webinars, What's New
NCBI at ASHG 2018: Data and Clinical CoLabs introduce interactive graphical displays and medical genetics resources
As you know, NCBI will be attending American Society of Human Genetics (ASHG) 2018 in San Diego. This year, we have two CoLabs – interactive sessions where you can learn about freely available NCBI tools and resources. Read on below … Continue reading
Posted by in ASHG, ClinVar, GDV, Genetic Testing Registry, Genome Data Viewer, GTR, MedGen, Medical Genetic Summaries, Variation, Variation Viewer, What's New