SNPTracker: A Swift Tool for Comprehensive Tracking and Unifying dbSNP rs IDs and Genomic Coordinates of Massive Sequence Variants
Author(s) -
Jiaen Deng,
Pak C. Sham,
Miaoxin Li
Publication year - 2015
Publication title -
g3 genes genomes genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.468
H-Index - 66
ISSN - 2160-1836
DOI - 10.1534/g3.115.021832
Subject(s) - dbsnp , genomics , computational biology , reference genome , identifier , single nucleotide polymorphism , snp , computer science , genetics , biology , data mining , genome , bioinformatics , gene , genotype , programming language
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.
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