SAMS

SAMS annotates patient phenotypes using Human Phenotype Ontology (HPO), OMIM, and Orphanet to enable standardized phenotypic characterization and data sharing for precision medicine.

Key Features:

• Integration with annotation resources: Provides access to Human Phenotype Ontology (HPO), OMIM, and Orphanet for comprehensive phenotype characterization using standardized clinical signs.
• Data storage and interoperability: Stores phenotype data in an internal database and supports import and export of phenotypes as Global Alliance for Genomics and Health (GA4GH) Phenopackets for compatibility with genomic data standards.
• Patient-reported phenotype capture: Supports recording of patient- or guardian-reported symptoms to include patient-reported data in phenotype records.
• Clinical-sign–based annotation: Leverages HPO's focus on clinical signs rather than diagnoses to produce precise, standardized phenotype descriptions applicable in genetic and non-genetic contexts.

Scientific Applications:

• Precision phenotyping: Enables detailed phenotypic characterization of patients to inform precision medicine approaches.
• Variant and disease mutation identification: Provides standardized phenotype data to support identification and interpretation of disease-causing mutations.
• Pathophysiology research: Facilitates studies of disease mechanisms by supplying harmonized clinical-sign phenotypic datasets.
• Clinical study recruitment and data sharing: Supports collection and sharing of phenotype data to aid patient recruitment for clinical studies and trials via GA4GH Phenopackets.

Methodology:

Annotates phenotypes using HPO clinical-sign terms, integrates phenotype information with OMIM and Orphanet, stores phenotypes in an internal database, and imports/exports phenotype data using GA4GH Phenopackets.