SNPTracker: A Swift Tool for Comprehensive Tracking and Unifying dbSNP rs IDs and Genomic Coordinates of Massive Sequence Variants. Issue 1 (1st January 2016)

• Record Type: Journal Article
• Authors: Deng, Jia-En; Sham, Pak C; Li, Miao-Xin
• Is Part Of: G3. Volume 6:Issue 1(2016)
• Page Start: 205
• Page End: 207
• Publication Date: 2016-01-01
• Subjects: single nucleotide polymorphism (SNP) -- dbSNP -- RefSnp (rs) ID -- genomic coordinate -- sequence variant; Genetics -- Research -- Periodicals; Genomics -- Periodicals; Genetics; Genomics; Genes; Genetics -- Research; Genomics; Electronic journals; Periodical; Periodicals; Fulltext; Internet Resources; Periodicals; 572.8
• DOI: 10.1534/g3.115.021832
• Languages: English
• ISSNs: 2160-1836

Abstract

Abstract: The reference single nucleotide polymorphism (rs) ID in dbSNP (http://www.ncbi.nlm.nih.gov/SNP/ ) is a key resource identifier, which is widely used in human genetics and genomics studies. However, its application is often complicated by the varied IDs of different versions. Here, we developed a user-friendly tool, SNPTracker, for comprehensively tracking and unifying the rs IDs and genomic coordinates of massive sequence variants at a time. It worked perfectly, and had much higher accuracy and capacity than two alternative utilities in our proof-of-principle examples. SNPTracker will greatly facilitate genetic data exchange and integration in the postgenome-wide association study era.