Category Archives: RefSNP
Non-human variation data from EVA now available in the Genome Data Viewer
You can now view SNP variation data for many commonly studied animals and plants – including mouse, cow, Drosophila, Arabidopsis, maize, cabbage, and many more – in the Genome Data Viewer (GDV) and other graphical sequence viewers. This data is … Continue reading
Posted by GDV, Genome Browser, RefSNP, Variation, What's New
indbSNP 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 dbGaP Allele Frequency Aggregator (ALFA), dbSNP, RefSNP, What's New
inApril 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
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 dbSNP, RefSNP, Variation, Variation Viewer, What's New
inNCBI releases newly designed dbSNP RefSNP Report – Alpha version
NCBI dbSNP is pleased to announce a newly designed Reference SNP (RefSNP, rs) Report webpage to provide enhanced performance and presentation for access to individual RefSNP records. This Alpha version of the report enables browsing of submitted and computed RefSNP … Continue reading
Posted by biomedical data, ClinVar, dbSNP, PubMed, RefSNP, Sequence Viewer, Variation, What's New
indbSNP’s human build 150 has doubled the amount of RefSNP records!
dbSNP’s Human Build 150 includes a large number of new submissions from the Human Longevity, Inc. (HLI) and TopMed, increasing the total number of Human RefSNPs in the database from 154 to 324 million. TopMed has also provided new allele frequency … Continue reading
Posted by dbSNP, RefSNP, Submissions, What's New
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