GPCards

GPCards aggregates curated individual-level genotype and clinical phenotype data to support interpretation of genotype-phenotype correlations in human genetic diseases.

Key Features:

• Extensive data compilation: Curated dataset derived from 1,855 publications comprising 8,309 genetic variants across 1,288 genes in 17,738 patients with detailed individual-level clinical phenotypic features.
• Integration with genomic data sources: Aggregates annotations from 62 genomic data sources including functional predictions, allele frequencies across different populations, and disease-related information.
• Patient-level genotype-phenotype mapping: Maps clinical phenotypes at the patient level to specific genetic variants to enable genotype-phenotype correlation analyses.
• Custom analysis and variant prioritization: Supports upload of user genetic data for automatic analysis, comprehensive annotation, and prioritization of candidate functional variants.

Scientific Applications:

• Variant interpretation: Facilitates interpretation of genetic variants by combining curated clinical phenotypes with multi-source annotations and functional predictions.
• Subtype classification: Supports clinical and molecular subtype classification through detailed genotype-phenotype correlation data.
• Candidate gene prioritization: Enables prioritization of candidate genes and variants for human genetic diseases using integrated annotations and patient-level phenotype associations.
• Mechanistic insights and precision medicine: Provides data to inform mechanistic studies and personalized medicine approaches by linking variants to specific clinical manifestations.

Methodology:

Compilation of a curated dataset from 1,855 publications (8,309 variants, 1,288 genes, 17,738 patients); integration of 62 genomic data sources including functional predictions, allele frequencies, and disease annotations; automatic analysis, comprehensive annotation, and prioritization of candidate functional variants; mapping of patient-level clinical phenotypes to specific genetic variants.