Simple ClinVar

Simple ClinVar enables exploration and retrieval of gene- and disease-associated variants aggregated in the ClinVar database to support analysis of variant pathogenicity and phenotype associations.

Key Features:

• ClinVar aggregation: Aggregates gene- and disease-associated variant records from the ClinVar database.
• Gene- and disease-level summary statistics: Computes summary statistics across ClinVar for genes and diseases.
• Disease-specific queries: Allows queries by disease terms to identify genes and phenotypes most frequently reported in ClinVar.
• Variant filtering and mapping: Enables selection of variant subsets, filtering, and mapping of variants onto corresponding protein sequences for positional context.
• Regular updates: Synchronizes with ClinVar releases on a monthly schedule to incorporate new data.

Scientific Applications:

• Genetic research: Supporting studies of genetic variation and its association with human diseases using aggregated ClinVar data.
• Clinical genetics: Providing aggregated ClinVar context to aid interpretation of patient variants and assessment of pathogenicity.
• Bioinformatics processing: Facilitating access to ClinVar-derived variant sets and summary statistics for downstream computational analyses.

Methodology:

Aggregates ClinVar records, computes gene- and disease-level summary statistics, supports disease-term queries, filters variant subsets, maps variants to protein sequences, and updates monthly with ClinVar releases.