ClinVar Celebrates 1 Million Submissions

  ClinVar is proud to announce the submission of the one millionth record to its database. The millionth submission was published on Friday, December 20, 2019, a milestone achievement for providing open access to human variant data with asserted consequence … Continue reading

December 4 Webinar: Human population genetic variation data at NCBI

On Wednesday, December 4, 2019 at 12 PM, NCBI staff will present a webinar on the population variation datasets at NCBI such as 1000 Genomes, ExAC, GnomAD, and TopMed that are currently included on dbSNP records. You will learn how … Continue reading

NCBI at ASHG 2019: Two Data CoLabs Demonstrate How to Analyze NextGen Sequence Data and Access Genetic Variation Population Data

NCBI will be attending the American Society of Human Genetics (ASHG) 2019 in Houston Texas on Oct 15-19. This year, we will be presenting two CoLabs – interactive sessions where you can learn about new NCBI tools and resources. Read on below … Continue reading

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

Structural Variant Hackathon

NCBI is pleased to announce a Structural Variant Hackathon at the Baylor College of Medicine, Houston Texas, immediately before ASHG on October 11-13, 2019. We’re specifically looking for folks who have experience in working with structural variants, complex disease, precision medicine, … Continue reading

ClinVar’s new XML aggregated by Variation ID

Now it’s easier than ever to access all data in ClinVar for a variant or set of variants across all reported diseases.  ClinVar’s new XML is organized by variant only (Variation ID), instead of the variant-disease pair. This reduces redundancy, … Continue reading

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 … … Continue reading

✚ Missing the Trees for the Forest (The Process #43)

Don't step so far away from the data that you miss the details that provide meaning to the overviews. Read More

Computational Medicine in the Cloud Hackathon: June 10-11, 2019

We are pleased to announce the first ever Computational Medicine in the Cloud Hackathon! NCBI will help run a bioinformatics hackathon in Baltimore, Maryland hosted by the Johns Hopkins University. We’re specifically looking for folks who have experience in working … Continue reading

Improved ClinVar search quickly connects you to information about variants

If you’ve been searching in ClinVar, you might have noticed search improvements introduced in December that reliably connect you with information on your variant of interest. ClinVar has broadened its search capability to accept many different ways of expressing the … Continue reading