Cargando…

UASIS: Universal Automatic SNP Identification System

BACKGROUND: SNP (Single Nucleotide Polymorphism), the most common genetic variations between human beings, is believed to be a promising way towards personalized medicine. As more and more research on SNPs are being conducted, non-standard nomenclatures may generate potential problems. The most seri...

Descripción completa

Detalles Bibliográficos
Autores principales: Poo, Danny C C, Cai, Shaojiang, Mah, James T L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3333510/
https://www.ncbi.nlm.nih.gov/pubmed/22369494
http://dx.doi.org/10.1186/1471-2164-12-S3-S9
_version_ 1782230459032272896
author Poo, Danny C C
Cai, Shaojiang
Mah, James T L
author_facet Poo, Danny C C
Cai, Shaojiang
Mah, James T L
author_sort Poo, Danny C C
collection PubMed
description BACKGROUND: SNP (Single Nucleotide Polymorphism), the most common genetic variations between human beings, is believed to be a promising way towards personalized medicine. As more and more research on SNPs are being conducted, non-standard nomenclatures may generate potential problems. The most serious issue is that researchers cannot perform cross referencing among different SNP databases. This will result in more resources and time required to track SNPs. It could be detrimental to the entire academic community. RESULTS: UASIS (Universal Automated SNP Identification System) is a web-based server for SNP nomenclature standardization and translation at DNA level. Three utilities are available. They are UASIS Aligner, Universal SNP Name Generator and SNP Name Mapper. UASIS maps SNPs from different databases, including dbSNP, GWAS, HapMap and JSNP etc., into an uniform view efficiently using a proposed universal nomenclature and state-of-art alignment algorithms. UASIS is freely available at http://www.uasis.tk with no requirement of log-in. CONCLUSIONS: UASIS is a helpful platform for SNP cross referencing and tracking. By providing an informative, unique and unambiguous nomenclature, which utilizes unique position of a SNP, we aim to resolve the ambiguity of SNP nomenclatures currently practised. Our universal nomenclature is a good complement to mainstream SNP notations such as rs# and HGVS guidelines. UASIS acts as a bridge to connect heterogeneous representations of SNPs.
format Online
Article
Text
id pubmed-3333510
institution National Center for Biotechnology Information
language English
publishDate 2011
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-33335102012-04-24 UASIS: Universal Automatic SNP Identification System Poo, Danny C C Cai, Shaojiang Mah, James T L BMC Genomics Proceedings BACKGROUND: SNP (Single Nucleotide Polymorphism), the most common genetic variations between human beings, is believed to be a promising way towards personalized medicine. As more and more research on SNPs are being conducted, non-standard nomenclatures may generate potential problems. The most serious issue is that researchers cannot perform cross referencing among different SNP databases. This will result in more resources and time required to track SNPs. It could be detrimental to the entire academic community. RESULTS: UASIS (Universal Automated SNP Identification System) is a web-based server for SNP nomenclature standardization and translation at DNA level. Three utilities are available. They are UASIS Aligner, Universal SNP Name Generator and SNP Name Mapper. UASIS maps SNPs from different databases, including dbSNP, GWAS, HapMap and JSNP etc., into an uniform view efficiently using a proposed universal nomenclature and state-of-art alignment algorithms. UASIS is freely available at http://www.uasis.tk with no requirement of log-in. CONCLUSIONS: UASIS is a helpful platform for SNP cross referencing and tracking. By providing an informative, unique and unambiguous nomenclature, which utilizes unique position of a SNP, we aim to resolve the ambiguity of SNP nomenclatures currently practised. Our universal nomenclature is a good complement to mainstream SNP notations such as rs# and HGVS guidelines. UASIS acts as a bridge to connect heterogeneous representations of SNPs. BioMed Central 2011-11-30 /pmc/articles/PMC3333510/ /pubmed/22369494 http://dx.doi.org/10.1186/1471-2164-12-S3-S9 Text en Copyright ©2011 Poo et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Proceedings
Poo, Danny C C
Cai, Shaojiang
Mah, James T L
UASIS: Universal Automatic SNP Identification System
title UASIS: Universal Automatic SNP Identification System
title_full UASIS: Universal Automatic SNP Identification System
title_fullStr UASIS: Universal Automatic SNP Identification System
title_full_unstemmed UASIS: Universal Automatic SNP Identification System
title_short UASIS: Universal Automatic SNP Identification System
title_sort uasis: universal automatic snp identification system
topic Proceedings
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3333510/
https://www.ncbi.nlm.nih.gov/pubmed/22369494
http://dx.doi.org/10.1186/1471-2164-12-S3-S9
work_keys_str_mv AT poodannycc uasisuniversalautomaticsnpidentificationsystem
AT caishaojiang uasisuniversalautomaticsnpidentificationsystem
AT mahjamestl uasisuniversalautomaticsnpidentificationsystem