Important dbSNP updates: New JSON data files, RefSNP report, API

dbSNP is moving to the new design with new products ready for testing including new JSON data files, the RefSNP page, and an API. New JSON data files Human Build 151 release is the last build that will provide relational … Continue reading

Bioinformatics paper uses NCBI open data to analyze drug response

A study (PMID: 28158543) published in the July 2017 issue of Bioinformatics collects, classifies and analyzes single nucleotide variants (SNVs) that may affect response to currently approved drugs. They identified 2,640 SNVs of interest, most of which occur rarely in populations (minor … Continue reading

RefSeq release 85 is now public

RefSeq release 85 is now accessible online, via FTP and through NCBI’s programming utilities. This full release incorporates genomic, transcript, and protein data available, as of November 6, 2017, and contains 146,710,309 records, including 100,043,962 proteins, 20,905,608 RNAs, and sequences … Continue reading

Variation feature changes in NCBI Reference Sequences coming in 2018

Starting in March 2018, SNP variation features will no longer be in RefSeq genome assembly records – chromosome and contig records with NC_, NT_, NW_ and AC_ accession prefixes. This change affects both the ASN.1 and flatfile records. Because the … Continue reading

RefSeq release 84 available

RefSeq release 84 is now accessible online, via FTP and through NCBI’s programming utilities. This full release incorporates genomic, transcript, and protein data available, as of September 11, 2017, and contains 140,627,690 records, including 95,563,598 proteins, 20,356,598 RNAs, and sequences … Continue reading

NCBI 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

RefSeq release 83 now public

RefSeq release 83 is now accessible online, via FTP and through NCBI’s programming utilities. This full release incorporates genomic, transcript, and protein data available as of July 17, 2017, and contains 132,052,465 records, including 88,385,530 proteins, 19,634,664 RNAs, and sequences … Continue reading

dbSNP architecture redesign supports future human variation data expansion; changes to be introduced over the next year

To continue providing efficient and timely processing, annotation, and dissemination of data, dbSNP’s architecture and process flow has been redesigned. The technical redesign prepares the database for increasing data volumes and providing timely, effective and trustworthy reference SNP results as … Continue reading

Phasing out support for non-human genome organism data in dbSNP and dbVar

This blog post is directed toward people who use dbSNP and dbVar, particularly those who submit non-human data to the two databases. dbSNP and dbVar archive, process, display and report information related to germline and somatic variations from multiple species. … Continue reading

dbSNP’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