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RNF: a general framework to evaluate NGS read mappers

Motivation: Read simulators combined with alignment evaluation tools provide the most straightforward way to evaluate and compare mappers. Simulation of reads is accompanied by information about their positions in the source genome. This information is then used to evaluate alignments produced by th...

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Detalles Bibliográficos
Autores principales: Břinda, Karel, Boeva, Valentina, Kucherov, Gregory
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681991/
https://www.ncbi.nlm.nih.gov/pubmed/26353839
http://dx.doi.org/10.1093/bioinformatics/btv524
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author Břinda, Karel
Boeva, Valentina
Kucherov, Gregory
author_facet Břinda, Karel
Boeva, Valentina
Kucherov, Gregory
author_sort Břinda, Karel
collection PubMed
description Motivation: Read simulators combined with alignment evaluation tools provide the most straightforward way to evaluate and compare mappers. Simulation of reads is accompanied by information about their positions in the source genome. This information is then used to evaluate alignments produced by the mapper. Finally, reports containing statistics of successful read alignments are created. In default of standards for encoding read origins, every evaluation tool has to be made explicitly compatible with the simulator used to generate reads. Results: To solve this obstacle, we have created a generic format Read Naming Format (Rnf) for assigning read names with encoded information about original positions. Futhermore, we have developed an associated software package RnfTools containing two principal components. MIShmash applies one of popular read simulating tools (among DwgSim, Art, Mason, CuReSim, etc.) and transforms the generated reads into Rnf format. LAVEnder evaluates then a given read mapper using simulated reads in Rnf format. A special attention is payed to mapping qualities that serve for parametrization of Roc curves, and to evaluation of the effect of read sample contamination. Availability and implementation: RnfTools: http://karel-brinda.github.io/rnftools Spec. of Rnf: http://karel-brinda.github.io/rnf-spec Contact: karel.brinda@univ-mlv.fr
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spelling pubmed-46819912015-12-18 RNF: a general framework to evaluate NGS read mappers Břinda, Karel Boeva, Valentina Kucherov, Gregory Bioinformatics Applications Notes Motivation: Read simulators combined with alignment evaluation tools provide the most straightforward way to evaluate and compare mappers. Simulation of reads is accompanied by information about their positions in the source genome. This information is then used to evaluate alignments produced by the mapper. Finally, reports containing statistics of successful read alignments are created. In default of standards for encoding read origins, every evaluation tool has to be made explicitly compatible with the simulator used to generate reads. Results: To solve this obstacle, we have created a generic format Read Naming Format (Rnf) for assigning read names with encoded information about original positions. Futhermore, we have developed an associated software package RnfTools containing two principal components. MIShmash applies one of popular read simulating tools (among DwgSim, Art, Mason, CuReSim, etc.) and transforms the generated reads into Rnf format. LAVEnder evaluates then a given read mapper using simulated reads in Rnf format. A special attention is payed to mapping qualities that serve for parametrization of Roc curves, and to evaluation of the effect of read sample contamination. Availability and implementation: RnfTools: http://karel-brinda.github.io/rnftools Spec. of Rnf: http://karel-brinda.github.io/rnf-spec Contact: karel.brinda@univ-mlv.fr Oxford University Press 2016-01-01 2015-09-09 /pmc/articles/PMC4681991/ /pubmed/26353839 http://dx.doi.org/10.1093/bioinformatics/btv524 Text en © The Author 2015. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Notes
Břinda, Karel
Boeva, Valentina
Kucherov, Gregory
RNF: a general framework to evaluate NGS read mappers
title RNF: a general framework to evaluate NGS read mappers
title_full RNF: a general framework to evaluate NGS read mappers
title_fullStr RNF: a general framework to evaluate NGS read mappers
title_full_unstemmed RNF: a general framework to evaluate NGS read mappers
title_short RNF: a general framework to evaluate NGS read mappers
title_sort rnf: a general framework to evaluate ngs read mappers
topic Applications Notes
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681991/
https://www.ncbi.nlm.nih.gov/pubmed/26353839
http://dx.doi.org/10.1093/bioinformatics/btv524
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