Category Archives: Variation
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
Posted by ClinVar, Science Features, Variation, What's New
inDecember 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
Posted by dbSNP, Variation, webinars, What's New
indbSNP 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 dbSNP, RefSNP, Variation, Variation Viewer, What's New
inStructural 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
Posted by ClinVar, MedGen, medical genetics, Variation, What's New
in50,000 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
Posted by ClinVar, dbVar, Variation, What's New
in✚ 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
Posted by distribution, summary, The Process, Variation
inComputational 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
Posted by hackathon, RNA-Seq, Variation, What's New
inImproved 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
Posted by ClinVar, dbSNP, medical genetics, Variation, What's New
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