Category Archives: dbSNP
NCBI Presents Two Online CoLabs at ASHG 2020!
Two up-and-coming NCBI resources will be featured in videos, surveys and live events at the American Society for Human Genetics (ASHG) 2020 Annual Meeting. Come and watch on-demand videos in the CoLab Theater. Then, let us know what you think and how you do or might use these resources by either taking an online survey … Continue reading NCBI Presents Two Online CoLabs at ASHG 2020!
dbSNP human build 154 release + ALFA data
dbSNP human build 154, now available, includes new ALFA (Allele Frequency Aggregator) variants and allele frequency. This build contains over two billion Submitted SNP (ss) records and 730 million Reference SNP (rs) records. New features include: dbSNP search now support HGVS … Continue reading
Posted by in dbGaP Allele Frequency Aggregator (ALFA), dbSNP, RefSNP, What's New
April 22 Webinar on NCBI’s ALFA: allele frequency data for variant analysis and interpretation
On Wednesday, April 22, 2020 at 12 PM, join NCBI staff to learn how results from the Allele Frequency Aggregator (ALFA) project will help you interpret the biological impact of common and rare sequence variants. ALFA’s initial release includes analysis … Continue reading
The ALFA dataset: New aggregated allele frequency from dbGaP and dbSNP now available
NIH’s data sharing policy now allows unrestricted access to genomic summary results for data from NCBI’s Database of Genotypes and Phenotypes (dbGaP). Pooled allele frequency data from dbSNP and the dbGaP summary results are available as the new Allele Frequency Aggregator … Continue reading
NCBI on YouTube: Get the most out of NCBI resources with these videos
Check out the latest videos on YouTube to learn how to best use NCBI graphical viewers, SRA, PGAP, and other resources. Genome Data Viewer: Analyzing Remote BAM Alignment Files and Other Tips This video shows you how to upload remote … Continue reading
Posted by in 1000 Genomes, API, ClinVar, dbgap, dbGaP Allele Frequency Aggregator (ALFA), dbSNP, DNA-Seq, ExAC, GDV, Genome, Genome Data Viewer, GnomAD, human variant data, PGAP, prokaryotic genome annotation, RNA-Seq, SPDI, SRA, TopMed, What's New, youtube
NCBI on YouTube: Get the most out of NCBI resources with these videos
Check out the latest videos on YouTube to learn how to best use NCBI graphical viewers, SRA, PGAP, and other resources. Genome Data Viewer: Analyzing Remote BAM Alignment Files and Other Tips This video shows you how to upload remote … Continue reading
Posted by in 1000 Genomes, API, ClinVar, dbgap, dbGaP Allele Frequency Aggregator (ALFA), dbSNP, DNA-Seq, ExAC, GDV, Genome, Genome Data Viewer, GnomAD, human variant data, PGAP, prokaryotic genome annotation, RNA-Seq, SPDI, SRA, TopMed, What's New, youtube
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
Posted by in dbSNP, Variation, webinars, What's New
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
Get “Gene+c.” results in ClinVar
Have you ever searched for a variant in ClinVar with a gene symbol and a c., and wondered why you got no result? Is the variant not in ClinVar, or was something wrong with your search? Wonder no more – … Continue reading
Posted by in ClinVar, dbSNP, What's New
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
Posted by in ClinVar, dbSNP, medical genetics, Variation, What's New