Phenoxome

Phenoxome prioritizes genetic variants by integrating phenotypic data with clinical exome sequencing (CES) using a phenotype-driven, network-based approach to identify candidate disease-causing genes and variants.

Key Features:

• Phenotype-driven model: Uses patient phenotypic information to guide variant prioritization.
• Network-based prioritization: Applies a network-based approach to prioritize genes and variants associated with observed phenotypes.
• Integration of phenotypic and genomic data: Integrates phenotypic data with genomic profiles to systematically filter variants.
• Automated variant prioritization: Automates filtering and ranking of potentially pathogenic variants detected by clinical exome sequencing.
• Focus on rare and deleterious variants: Prioritizes rare and deleterious variants in genes linked to the patient's observed phenotypes.

Scientific Applications:

• Clinical exome sequencing interpretation: Improves interpretation and diagnostic efficiency of clinical exome sequencing (CES) for suspected monogenic disorders.
• Diagnosis of complex pediatric monogenic disorders: Supports identification of causal variants in complex pediatric disorders with suspected monogenic origins.
• Variant triage among large callsets: Facilitates identification of causal variants among thousands detected during CES.

Methodology:

Implements a phenotype-driven, network-based computational model that integrates phenotypic data with genomic profiles to systematically filter and prioritize rare and deleterious variants detected by clinical exome sequencing.