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SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects
BACKGROUND: High-throughput re-sequencing, new genotyping technologies and the availability of reference genomes allow the extensive characterization of Single Nucleotide Polymorphisms (SNPs) and insertion/deletion events (indels) in many plant species. The rapidly increasing amount of re-sequencing...
Autores principales: | , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102043/ https://www.ncbi.nlm.nih.gov/pubmed/21545712 http://dx.doi.org/10.1186/1471-2105-12-134 |
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author | Dereeper, Alexis Nicolas, Stéphane Le Cunff, Loïc Bacilieri, Roberto Doligez, Agnès Peros, Jean-Pierre Ruiz, Manuel This, Patrice |
author_facet | Dereeper, Alexis Nicolas, Stéphane Le Cunff, Loïc Bacilieri, Roberto Doligez, Agnès Peros, Jean-Pierre Ruiz, Manuel This, Patrice |
author_sort | Dereeper, Alexis |
collection | PubMed |
description | BACKGROUND: High-throughput re-sequencing, new genotyping technologies and the availability of reference genomes allow the extensive characterization of Single Nucleotide Polymorphisms (SNPs) and insertion/deletion events (indels) in many plant species. The rapidly increasing amount of re-sequencing and genotyping data generated by large-scale genetic diversity projects requires the development of integrated bioinformatics tools able to efficiently manage, analyze, and combine these genetic data with genome structure and external data. RESULTS: In this context, we developed SNiPlay, a flexible, user-friendly and integrative web-based tool dedicated to polymorphism discovery and analysis. It integrates: 1) a pipeline, freely accessible through the internet, combining existing softwares with new tools to detect SNPs and to compute different types of statistical indices and graphical layouts for SNP data. From standard sequence alignments, genotyping data or Sanger sequencing traces given as input, SNiPlay detects SNPs and indels events and outputs submission files for the design of Illumina's SNP chips. Subsequently, it sends sequences and genotyping data into a series of modules in charge of various processes: physical mapping to a reference genome, annotation (genomic position, intron/exon location, synonymous/non-synonymous substitutions), SNP frequency determination in user-defined groups, haplotype reconstruction and network, linkage disequilibrium evaluation, and diversity analysis (Pi, Watterson's Theta, Tajima's D). Furthermore, the pipeline allows the use of external data (such as phenotype, geographic origin, taxa, stratification) to define groups and compare statistical indices. 2) a database storing polymorphisms, genotyping data and grapevine sequences released by public and private projects. It allows the user to retrieve SNPs using various filters (such as genomic position, missing data, polymorphism type, allele frequency), to compare SNP patterns between populations, and to export genotyping data or sequences in various formats. CONCLUSIONS: Our experiments on grapevine genetic projects showed that SNiPlay allows geneticists to rapidly obtain advanced results in several key research areas of plant genetic diversity. Both the management and treatment of large amounts of SNP data are rendered considerably easier for end-users through automation and integration. Current developments are taking into account new advances in high-throughput technologies. SNiPlay is available at: http://sniplay.cirad.fr/. |
format | Text |
id | pubmed-3102043 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-31020432011-05-26 SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects Dereeper, Alexis Nicolas, Stéphane Le Cunff, Loïc Bacilieri, Roberto Doligez, Agnès Peros, Jean-Pierre Ruiz, Manuel This, Patrice BMC Bioinformatics Software BACKGROUND: High-throughput re-sequencing, new genotyping technologies and the availability of reference genomes allow the extensive characterization of Single Nucleotide Polymorphisms (SNPs) and insertion/deletion events (indels) in many plant species. The rapidly increasing amount of re-sequencing and genotyping data generated by large-scale genetic diversity projects requires the development of integrated bioinformatics tools able to efficiently manage, analyze, and combine these genetic data with genome structure and external data. RESULTS: In this context, we developed SNiPlay, a flexible, user-friendly and integrative web-based tool dedicated to polymorphism discovery and analysis. It integrates: 1) a pipeline, freely accessible through the internet, combining existing softwares with new tools to detect SNPs and to compute different types of statistical indices and graphical layouts for SNP data. From standard sequence alignments, genotyping data or Sanger sequencing traces given as input, SNiPlay detects SNPs and indels events and outputs submission files for the design of Illumina's SNP chips. Subsequently, it sends sequences and genotyping data into a series of modules in charge of various processes: physical mapping to a reference genome, annotation (genomic position, intron/exon location, synonymous/non-synonymous substitutions), SNP frequency determination in user-defined groups, haplotype reconstruction and network, linkage disequilibrium evaluation, and diversity analysis (Pi, Watterson's Theta, Tajima's D). Furthermore, the pipeline allows the use of external data (such as phenotype, geographic origin, taxa, stratification) to define groups and compare statistical indices. 2) a database storing polymorphisms, genotyping data and grapevine sequences released by public and private projects. It allows the user to retrieve SNPs using various filters (such as genomic position, missing data, polymorphism type, allele frequency), to compare SNP patterns between populations, and to export genotyping data or sequences in various formats. CONCLUSIONS: Our experiments on grapevine genetic projects showed that SNiPlay allows geneticists to rapidly obtain advanced results in several key research areas of plant genetic diversity. Both the management and treatment of large amounts of SNP data are rendered considerably easier for end-users through automation and integration. Current developments are taking into account new advances in high-throughput technologies. SNiPlay is available at: http://sniplay.cirad.fr/. BioMed Central 2011-05-05 /pmc/articles/PMC3102043/ /pubmed/21545712 http://dx.doi.org/10.1186/1471-2105-12-134 Text en Copyright © 2011 Dereeper et al; licensee BioMed Central Ltd. https://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 (https://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 Dereeper, Alexis Nicolas, Stéphane Le Cunff, Loïc Bacilieri, Roberto Doligez, Agnès Peros, Jean-Pierre Ruiz, Manuel This, Patrice SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects |
title | SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects |
title_full | SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects |
title_fullStr | SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects |
title_full_unstemmed | SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects |
title_short | SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects |
title_sort | sniplay: a web-based tool for detection, management and analysis of snps. application to grapevine diversity projects |
topic | Software |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102043/ https://www.ncbi.nlm.nih.gov/pubmed/21545712 http://dx.doi.org/10.1186/1471-2105-12-134 |
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