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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Genetics Society of America
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704719/ https://www.ncbi.nlm.nih.gov/pubmed/26585827 http://dx.doi.org/10.1534/g3.115.021832 |
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author | Deng, Jia-En Sham, Pak C. Li, Miao-Xin |
author_facet | Deng, Jia-En Sham, Pak C. Li, Miao-Xin |
author_sort | Deng, Jia-En |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4704719 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Genetics Society of America |
record_format | MEDLINE/PubMed |
spelling | pubmed-47047192016-01-08 SNPTracker: A Swift Tool for Comprehensive Tracking and Unifying dbSNP rs IDs and Genomic Coordinates of Massive Sequence Variants Deng, Jia-En Sham, Pak C. Li, Miao-Xin G3 (Bethesda) Investigations 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. Genetics Society of America 2015-11-19 /pmc/articles/PMC4704719/ /pubmed/26585827 http://dx.doi.org/10.1534/g3.115.021832 Text en Copyright © 2016 Deng et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Investigations Deng, Jia-En Sham, Pak C. Li, Miao-Xin SNPTracker: A Swift Tool for Comprehensive Tracking and Unifying dbSNP rs IDs and Genomic Coordinates of Massive Sequence Variants |
title | SNPTracker: A Swift Tool for Comprehensive Tracking and Unifying dbSNP rs
IDs and Genomic Coordinates of Massive Sequence Variants |
title_full | SNPTracker: A Swift Tool for Comprehensive Tracking and Unifying dbSNP rs
IDs and Genomic Coordinates of Massive Sequence Variants |
title_fullStr | SNPTracker: A Swift Tool for Comprehensive Tracking and Unifying dbSNP rs
IDs and Genomic Coordinates of Massive Sequence Variants |
title_full_unstemmed | SNPTracker: A Swift Tool for Comprehensive Tracking and Unifying dbSNP rs
IDs and Genomic Coordinates of Massive Sequence Variants |
title_short | SNPTracker: A Swift Tool for Comprehensive Tracking and Unifying dbSNP rs
IDs and Genomic Coordinates of Massive Sequence Variants |
title_sort | snptracker: a swift tool for comprehensive tracking and unifying dbsnp rs
ids and genomic coordinates of massive sequence variants |
topic | Investigations |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704719/ https://www.ncbi.nlm.nih.gov/pubmed/26585827 http://dx.doi.org/10.1534/g3.115.021832 |
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