Human-Disease-Genes

Human-Disease-Genes provides a gene-centric repository of clinical phenotypic data linked to novel genetic variants to support interpretation in the context of next-generation sequencing.

Key Features:

• Comprehensive Clinical Data: Curated clinical information for individual genes including unpublished patient records and detailed phenotypic descriptions contributed by clinicians and researchers.
• Scale and Coverage: Consists of 424 gene-specific websites managed by 325 moderators, with an average of 14.4 patients documented per gene.
• Collaborative Moderation: Each gene-specific site is moderated by domain experts to maintain curated, gene-focused content.

Scientific Applications:

• Research Facilitation: Centralizes phenotype data to support rare disease research and variant interpretation, exemplified by ARID1B where clinical data were gathered for 81 new patients.
• Clinical Management: Informs clinical interpretation, diagnosis, and care planning for conditions such as developmental delay and autism by linking detailed phenotypes to pathogenic variants.

Methodology:

Continuously updated digital library with clinical phenotypic records curated by clinicians and researchers, integrating both published and unpublished patient data.