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SNPTracker: A Swift Tool for Comprehensive Tracking and Unifying dbSNP rs IDs and Genomic Coordinates of Massive

Jia-En Deng¹, Pak C Sham², Miao-Xin Li³

¹Department of Psychiatry, University of Hong Kong.

G3 (Bethesda, Md.)

|November 21, 2015

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.

Keywords:

RefSnp (rs) ID dbSNP genomic coordinate sequence variant single nucleotide polymorphism (SNP)

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