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Fido-SNP: the first webserver for scoring the impact of single nucleotide variants in the dog genome

As the amount of genomic variation data increases, tools that are able to score the functional impact of single nucleotide variants become more and more necessary. While there are several prediction servers available for interpreting the effects of variants in the human genome, only few have been de...

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Autores principales: Capriotti, Emidio, Montanucci, Ludovica, Profiti, Giuseppe, Rossi, Ivan, Giannuzzi, Diana, Aresu, Luca, Fariselli, Piero
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602425/
https://www.ncbi.nlm.nih.gov/pubmed/31114899
http://dx.doi.org/10.1093/nar/gkz420
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author Capriotti, Emidio
Montanucci, Ludovica
Profiti, Giuseppe
Rossi, Ivan
Giannuzzi, Diana
Aresu, Luca
Fariselli, Piero
author_facet Capriotti, Emidio
Montanucci, Ludovica
Profiti, Giuseppe
Rossi, Ivan
Giannuzzi, Diana
Aresu, Luca
Fariselli, Piero
author_sort Capriotti, Emidio
collection PubMed
description As the amount of genomic variation data increases, tools that are able to score the functional impact of single nucleotide variants become more and more necessary. While there are several prediction servers available for interpreting the effects of variants in the human genome, only few have been developed for other species, and none were specifically designed for species of veterinary interest such as the dog. Here, we present Fido-SNP the first predictor able to discriminate between Pathogenic and Benign single-nucleotide variants in the dog genome. Fido-SNP is a binary classifier based on the Gradient Boosting algorithm. It is able to classify and score the impact of variants in both coding and non-coding regions based on sequence features within seconds. When validated on a previously unseen set of annotated variants from the OMIA database, Fido-SNP reaches 88% overall accuracy, 0.77 Matthews correlation coefficient and 0.91 Area Under the ROC Curve.
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spelling pubmed-66024252019-07-05 Fido-SNP: the first webserver for scoring the impact of single nucleotide variants in the dog genome Capriotti, Emidio Montanucci, Ludovica Profiti, Giuseppe Rossi, Ivan Giannuzzi, Diana Aresu, Luca Fariselli, Piero Nucleic Acids Res Web Server Issue As the amount of genomic variation data increases, tools that are able to score the functional impact of single nucleotide variants become more and more necessary. While there are several prediction servers available for interpreting the effects of variants in the human genome, only few have been developed for other species, and none were specifically designed for species of veterinary interest such as the dog. Here, we present Fido-SNP the first predictor able to discriminate between Pathogenic and Benign single-nucleotide variants in the dog genome. Fido-SNP is a binary classifier based on the Gradient Boosting algorithm. It is able to classify and score the impact of variants in both coding and non-coding regions based on sequence features within seconds. When validated on a previously unseen set of annotated variants from the OMIA database, Fido-SNP reaches 88% overall accuracy, 0.77 Matthews correlation coefficient and 0.91 Area Under the ROC Curve. Oxford University Press 2019-07-02 2019-05-22 /pmc/articles/PMC6602425/ /pubmed/31114899 http://dx.doi.org/10.1093/nar/gkz420 Text en © The Author(s) 2019. Published by Oxford University Press on behalf of Nucleic Acids Research. 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 Web Server Issue
Capriotti, Emidio
Montanucci, Ludovica
Profiti, Giuseppe
Rossi, Ivan
Giannuzzi, Diana
Aresu, Luca
Fariselli, Piero
Fido-SNP: the first webserver for scoring the impact of single nucleotide variants in the dog genome
title Fido-SNP: the first webserver for scoring the impact of single nucleotide variants in the dog genome
title_full Fido-SNP: the first webserver for scoring the impact of single nucleotide variants in the dog genome
title_fullStr Fido-SNP: the first webserver for scoring the impact of single nucleotide variants in the dog genome
title_full_unstemmed Fido-SNP: the first webserver for scoring the impact of single nucleotide variants in the dog genome
title_short Fido-SNP: the first webserver for scoring the impact of single nucleotide variants in the dog genome
title_sort fido-snp: the first webserver for scoring the impact of single nucleotide variants in the dog genome
topic Web Server Issue
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6602425/
https://www.ncbi.nlm.nih.gov/pubmed/31114899
http://dx.doi.org/10.1093/nar/gkz420
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