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Snpdat: Easy and rapid annotation of results from de novo snp discovery projects for model and non-model organisms

BACKGROUND: Single nucleotide polymorphisms (SNPs) are the most abundant genetic variant found in vertebrates and invertebrates. SNP discovery has become a highly automated, robust and relatively inexpensive process allowing the identification of many thousands of mutations for model and non-model o...

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Autores principales: Doran, Anthony G, Creevey, Christopher J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3574845/
https://www.ncbi.nlm.nih.gov/pubmed/23390980
http://dx.doi.org/10.1186/1471-2105-14-45
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author Doran, Anthony G
Creevey, Christopher J
author_facet Doran, Anthony G
Creevey, Christopher J
author_sort Doran, Anthony G
collection PubMed
description BACKGROUND: Single nucleotide polymorphisms (SNPs) are the most abundant genetic variant found in vertebrates and invertebrates. SNP discovery has become a highly automated, robust and relatively inexpensive process allowing the identification of many thousands of mutations for model and non-model organisms. Annotating large numbers of SNPs can be a difficult and complex process. Many tools available are optimised for use with organisms densely sampled for SNPs, such as humans. There are currently few tools available that are species non-specific or support non-model organism data. RESULTS: Here we present SNPdat, a high throughput analysis tool that can provide a comprehensive annotation of both novel and known SNPs for any organism with a draft sequence and annotation. Using a dataset of 4,566 SNPs identified in cattle using high-throughput DNA sequencing we demonstrate the annotations performed and the statistics that can be generated by SNPdat. CONCLUSIONS: SNPdat provides users with a simple tool for annotation of genomes that are either not supported by other tools or have a small number of annotated SNPs available. SNPdat can also be used to analyse datasets from organisms which are densely sampled for SNPs. As a command line tool it can easily be incorporated into existing SNP discovery pipelines and fills a niche for analyses involving non-model organisms that are not supported by many available SNP annotation tools. SNPdat will be of great interest to scientists involved in SNP discovery and analysis projects, particularly those with limited bioinformatics experience.
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spelling pubmed-35748452013-02-18 Snpdat: Easy and rapid annotation of results from de novo snp discovery projects for model and non-model organisms Doran, Anthony G Creevey, Christopher J BMC Bioinformatics Software BACKGROUND: Single nucleotide polymorphisms (SNPs) are the most abundant genetic variant found in vertebrates and invertebrates. SNP discovery has become a highly automated, robust and relatively inexpensive process allowing the identification of many thousands of mutations for model and non-model organisms. Annotating large numbers of SNPs can be a difficult and complex process. Many tools available are optimised for use with organisms densely sampled for SNPs, such as humans. There are currently few tools available that are species non-specific or support non-model organism data. RESULTS: Here we present SNPdat, a high throughput analysis tool that can provide a comprehensive annotation of both novel and known SNPs for any organism with a draft sequence and annotation. Using a dataset of 4,566 SNPs identified in cattle using high-throughput DNA sequencing we demonstrate the annotations performed and the statistics that can be generated by SNPdat. CONCLUSIONS: SNPdat provides users with a simple tool for annotation of genomes that are either not supported by other tools or have a small number of annotated SNPs available. SNPdat can also be used to analyse datasets from organisms which are densely sampled for SNPs. As a command line tool it can easily be incorporated into existing SNP discovery pipelines and fills a niche for analyses involving non-model organisms that are not supported by many available SNP annotation tools. SNPdat will be of great interest to scientists involved in SNP discovery and analysis projects, particularly those with limited bioinformatics experience. BioMed Central 2013-02-08 /pmc/articles/PMC3574845/ /pubmed/23390980 http://dx.doi.org/10.1186/1471-2105-14-45 Text en Copyright ©2013 Doran and Creevey; 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 Software
Doran, Anthony G
Creevey, Christopher J
Snpdat: Easy and rapid annotation of results from de novo snp discovery projects for model and non-model organisms
title Snpdat: Easy and rapid annotation of results from de novo snp discovery projects for model and non-model organisms
title_full Snpdat: Easy and rapid annotation of results from de novo snp discovery projects for model and non-model organisms
title_fullStr Snpdat: Easy and rapid annotation of results from de novo snp discovery projects for model and non-model organisms
title_full_unstemmed Snpdat: Easy and rapid annotation of results from de novo snp discovery projects for model and non-model organisms
title_short Snpdat: Easy and rapid annotation of results from de novo snp discovery projects for model and non-model organisms
title_sort snpdat: easy and rapid annotation of results from de novo snp discovery projects for model and non-model organisms
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3574845/
https://www.ncbi.nlm.nih.gov/pubmed/23390980
http://dx.doi.org/10.1186/1471-2105-14-45
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