SNPector

SNPector identifies and analyzes single nucleotide polymorphisms (SNPs) from raw genomic sequences to assess gene pathogenicity and predict drug response.

Key Features:

• SNP Identification and Extraction: Identifies and extracts SNPs related to specific genes from raw (naked) genomic sequences.
• Comprehensive Reporting: Generates reports listing genomic positions of identified SNPs, associated phenotype disorders, linked diseases, and linkage disequilibrium information.
• Drug Reaction Information: Integrates data from NCBI ClinVar, Awesome, and PharmGKB to associate identified SNPs with drug reaction and pharmacogenomic information.
• Visualization Capabilities: Produces visualizations of extracted SNP data to support interpretation of genetic variation.

Scientific Applications:

• Early disease diagnosis: Enables detection of clinically relevant SNPs that can inform early diagnosis of genetic disorders.
• Pharmacogenomics and drug efficacy evaluation: Assesses how identified SNPs may influence drug response and efficacy using ClinVar, Awesome, and PharmGKB data.
• Personalized therapy development: Supports development of tailored therapies by linking SNPs to pathogenicity and drug-reaction information.
• Research on known and novel variants: Facilitates analysis of both newly discovered and previously reported SNPs for disease and phenotype associations.

Methodology:

Identifies and extracts SNPs from raw genomic sequences and cross-references them against NCBI ClinVar, Awesome, and PharmGKB to verify and annotate SNP presence with genomic position, phenotype associations, disease links, and linkage disequilibrium for reporting and visualization.