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ASSIsT: an automatic SNP scoring tool for in- and outbreeding species

ASSIsT (Automatic SNP ScorIng Tool) is a user-friendly customized pipeline for efficient calling and filtering of SNPs from Illumina Infinium arrays, specifically devised for custom genotyping arrays. Illumina has developed an integrated software for SNP data visualization and inspection called Geno...

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Autores principales: Di Guardo, Mario, Micheletti, Diego, Bianco, Luca, Koehorst-van Putten, Herma J. J., Longhi, Sara, Costa, Fabrizio, Aranzana, Maria J., Velasco, Riccardo, Arús, Pere, Troggio, Michela, van de Weg, Eric W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4653386/
https://www.ncbi.nlm.nih.gov/pubmed/26249809
http://dx.doi.org/10.1093/bioinformatics/btv446
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author Di Guardo, Mario
Micheletti, Diego
Bianco, Luca
Koehorst-van Putten, Herma J. J.
Longhi, Sara
Costa, Fabrizio
Aranzana, Maria J.
Velasco, Riccardo
Arús, Pere
Troggio, Michela
van de Weg, Eric W.
author_facet Di Guardo, Mario
Micheletti, Diego
Bianco, Luca
Koehorst-van Putten, Herma J. J.
Longhi, Sara
Costa, Fabrizio
Aranzana, Maria J.
Velasco, Riccardo
Arús, Pere
Troggio, Michela
van de Weg, Eric W.
author_sort Di Guardo, Mario
collection PubMed
description ASSIsT (Automatic SNP ScorIng Tool) is a user-friendly customized pipeline for efficient calling and filtering of SNPs from Illumina Infinium arrays, specifically devised for custom genotyping arrays. Illumina has developed an integrated software for SNP data visualization and inspection called GenomeStudio® (GS). ASSIsT builds on GS-derived data and identifies those markers that follow a bi-allelic genetic model and show reliable genotype calls. Moreover, ASSIsT re-edits SNP calls with null alleles or additional SNPs in the probe annealing site. ASSIsT can be employed in the analysis of different population types such as full-sib families and mating schemes used in the plant kingdom (backcross, F1, F2), and unrelated individuals. The final result can be directly exported in the format required by the most common software for genetic mapping and marker–trait association analysis. ASSIsT is developed in Python and runs in Windows and Linux. Availability and implementation: The software, example data sets and tutorials are freely available at http://compbiotoolbox.fmach.it/assist/. Contact: eric.vandeweg@wur.nl
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spelling pubmed-46533862015-11-20 ASSIsT: an automatic SNP scoring tool for in- and outbreeding species Di Guardo, Mario Micheletti, Diego Bianco, Luca Koehorst-van Putten, Herma J. J. Longhi, Sara Costa, Fabrizio Aranzana, Maria J. Velasco, Riccardo Arús, Pere Troggio, Michela van de Weg, Eric W. Bioinformatics Applications Notes ASSIsT (Automatic SNP ScorIng Tool) is a user-friendly customized pipeline for efficient calling and filtering of SNPs from Illumina Infinium arrays, specifically devised for custom genotyping arrays. Illumina has developed an integrated software for SNP data visualization and inspection called GenomeStudio® (GS). ASSIsT builds on GS-derived data and identifies those markers that follow a bi-allelic genetic model and show reliable genotype calls. Moreover, ASSIsT re-edits SNP calls with null alleles or additional SNPs in the probe annealing site. ASSIsT can be employed in the analysis of different population types such as full-sib families and mating schemes used in the plant kingdom (backcross, F1, F2), and unrelated individuals. The final result can be directly exported in the format required by the most common software for genetic mapping and marker–trait association analysis. ASSIsT is developed in Python and runs in Windows and Linux. Availability and implementation: The software, example data sets and tutorials are freely available at http://compbiotoolbox.fmach.it/assist/. Contact: eric.vandeweg@wur.nl Oxford University Press 2015-12-01 2015-08-06 /pmc/articles/PMC4653386/ /pubmed/26249809 http://dx.doi.org/10.1093/bioinformatics/btv446 Text en © The Author 2015. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Applications Notes
Di Guardo, Mario
Micheletti, Diego
Bianco, Luca
Koehorst-van Putten, Herma J. J.
Longhi, Sara
Costa, Fabrizio
Aranzana, Maria J.
Velasco, Riccardo
Arús, Pere
Troggio, Michela
van de Weg, Eric W.
ASSIsT: an automatic SNP scoring tool for in- and outbreeding species
title ASSIsT: an automatic SNP scoring tool for in- and outbreeding species
title_full ASSIsT: an automatic SNP scoring tool for in- and outbreeding species
title_fullStr ASSIsT: an automatic SNP scoring tool for in- and outbreeding species
title_full_unstemmed ASSIsT: an automatic SNP scoring tool for in- and outbreeding species
title_short ASSIsT: an automatic SNP scoring tool for in- and outbreeding species
title_sort assist: an automatic snp scoring tool for in- and outbreeding species
topic Applications Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4653386/
https://www.ncbi.nlm.nih.gov/pubmed/26249809
http://dx.doi.org/10.1093/bioinformatics/btv446
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