iVariantGuide

iVariantGuide facilitates tertiary analysis of next-generation sequencing (NGS) data to assess genetic variants and their effects on biological pathways and Gene Ontology (GO) terms for molecular genetic testing and clinical interpretation.

Key Features:

• Variant Assessment: Performs variant assessment on NGS data to interpret genetic variants for risk evaluation, diagnosis support, and management considerations.
• Pathway Impact Analysis: Evaluates the impact of specific genetic variants on biological pathways to provide mechanistic insights into disease-related processes.
• Gene Ontology (GO) Analysis: Maps variants to Gene Ontology terms to infer functional implications at the molecular and biological process levels.

Scientific Applications:

• Molecular genetic testing and clinical interpretation: Supports clinical predictions, diagnoses, and pharmacological treatment planning based on individual genetic profiles.
• Cancer research (high-risk serous ovarian cancer, OVCA): Applied to filter novel variants and assess their effects on relevant pathways and GO terms in studies of high-risk serous OVCA patients.

Methodology:

Performs tertiary analysis of publicly available NGS datasets including variant filtering, pathway impact analysis, and mapping variants to Gene Ontology terms.