CHDbase

CHDbase consolidates and curates CHD-related genes, genetic variations, and associated clinical manifestations from 1,114 publications to enable genetic interpretation and research into congenital heart disease.

Key Features:

• Comprehensive gene and variation database: Links 1,124 susceptibility genes and 3,591 variations to over 300 types of CHD and related syndromes, with manual curation.
• Integrated metadata: Includes publication information, selected population and sample strategies, study methodologies, and major findings for each entry.
• Functional annotations: Provides functional annotations parsed from approximately 50 databases and tools to support interpretation of gene and variant pathogenicity.
• Gene interaction network approach: Prioritizes CHD-related genes using a gene interaction network approach and extracts a core sub-network of 163 genes.
• Phenotype classification by genetic origin: Enables classification of CHD phenotypes based on shared genetic origins and the underlying genetic landscape.

Scientific Applications:

• Genetic susceptibility research: Support research into genetic susceptibilities and mechanisms underlying congenital heart disease using curated gene and variant data.
• Variant interpretation and pathogenicity assessment: Facilitate interpretation of variants and assessment of pathogenicity using consolidated annotations and literature evidence.
• Genotype–phenotype classification: Enable phenotype classification by shared genetic origin to inform genotype–phenotype studies and personalized-medicine investigations.
• Clinical diagnostic support: Inform clinical diagnostic interpretation and support genotype-informed clinical decision considerations.

Methodology:

Manual curation of 1,114 publications; extraction of publication metadata, population/sample strategies, study methodologies, and major findings; parsing functional annotations from approximately 50 databases and tools; and prioritization of genes via a gene interaction network analysis that yielded a 163-gene core sub-network.