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

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

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...

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Bibliographic Details
Main Authors: Jia-En Deng, Pak C. Sham, Miao-Xin Li
Format: Article
Language:English
Published: Oxford University Press 2016-01-01
Series:G3: Genes, Genomes, Genetics
Subjects:
single nucleotide polymorphism (SNP)
dbSNP
RefSnp (rs) ID
genomic coordinate
sequence variant
Online Access:http://g3journal.org/lookup/doi/10.1534/g3.115.021832
Description
Summary: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.
ISSN:2160-1836

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