E-Pedigrees

E-Pedigrees constructs family pedigrees from Electronic Health Records (EHR) to support large-scale genetic and epidemiological studies.

Key Features:

• Integration of Family Prediction Algorithms: Incorporates two validated family prediction algorithms to construct pedigrees at scale.
• Utilization of Demographic and Contact Data: Uses patient demographic attributes and emergency contact information from EHR to infer parent–child relationships.
• Flexibility in Data Integration: Allows layering of additional family data when available to augment pedigree construction.
• Customizable Logical Rules: Applies configurable logical rules to refine and resolve inferred familial relationships.
• Compatibility with Multiple EHR Sources: Processes demographic and contact data across diverse EHR data sources for cross-site applicability.
• Standard Output Format: Exports pedigrees in PED file format for downstream genetic analyses.

Scientific Applications:

• Genetic Epidemiology Studies: Supports analysis of familial context to investigate genetic and environmental contributors to disease.
• Family-Based Recruitment for Genetic Research: Enables identification and recruitment of families from EHR for family-based genetic studies.
• Hereditary Pattern Analysis: Facilitates analysis of inheritance patterns within constructed pedigrees.
• Gene–Environment Interaction Studies: Provides family structure needed to examine gene–environment interactions.

Methodology:

Integrates two validated family prediction algorithms that utilize demographic and emergency contact fields from EHR to predict parent–child relationships, supports incorporation of additional pedigree data, applies customizable logical rules to resolve relationships, and outputs pedigrees in PED file format.