Fido-SNP
Fido-SNP assesses the functional impact of single nucleotide variants (SNVs) in the dog genome to predict pathogenic versus benign variants for veterinary and canine genetics research.
Key Features:
- Species-Specific Design: Tailored to canine genomic data to account for species-specific patterns in SNV impact prediction.
- Binary Classification System: Implements a Gradient Boosting binary classifier that distinguishes pathogenic from benign SNVs.
- Comprehensive Variant Analysis: Analyzes both coding and non-coding regions using sequence-derived features and provides rapid assessments.
- High Predictive Accuracy: Validated on annotated variants from the OMIA database with accuracy 88%, Matthews correlation coefficient 0.77, and AUC 0.91.
Scientific Applications:
- Canine genetics research: Predicting SNV pathogenicity to investigate genetic influences on health and disease in dogs.
- Veterinary medicine and breeding: Informing studies of genetic predisposition, disease-associated variants, and breeding-related genetic decisions.
Methodology:
Applies a Gradient Boosting binary classifier trained on sequence-derived features from coding and non-coding regions and validated against OMIA-annotated variants.
Topics
Details
- License:
- CC-BY-NC-SA-4.0
- Maturity:
- Mature
- Cost:
- Free of charge
- Tool Type:
- api, web application
- Operating Systems:
- Linux, Windows, Mac
- Programming Languages:
- Python
- Added:
- 8/9/2019
- Last Updated:
- 6/16/2020
Operations
Publications
Capriotti E, Montanucci L, Profiti G, Rossi I, Giannuzzi D, Aresu L, Fariselli P. Fido-SNP: the first webserver for scoring the impact of single nucleotide variants in the dog genome. Nucleic Acids Research. 2019;47(W1):W136-W141. doi:10.1093/nar/gkz420. PMID:31114899. PMCID:PMC6602425.
DOI: 10.1093/NAR/GKZ420
PMID: 31114899
PMCID: PMC6602425
Funding: - Padova University: SID-2017
- Ministry of Education, Universities and Research: D15D18000410001
Documentation
User manual
http://fidosnp.bca.unipd.it/help.htmlLinks
Repository
https://github.com/biofold/Fido-SNPIssue tracker
https://github.com/biofold/Fido-SNP/issues