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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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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. |
format | Online Article Text |
id | pubmed-6602425 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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