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.

PMID: 31114899
PMCID: PMC6602425
Funding: - Padova University: SID-2017 - Ministry of Education, Universities and Research: D15D18000410001

Documentation

Links