VannoPortal is a variant annotation database that comprehensively collects and integrates genome-wide variant annotations and prediction scores from various biological domains, including allele frequency, linkage disequilibrium, evolutionary signature, disease/trait association, pathogenesis, allele imbalance, base-wise functional prediction and tissue/cell type-specific functional profile. It greatly expands context-dependent variant annotation to incorporate large-scale epigenomic maps across human tissues/cell types, and compiles many genome-scale base-wise prediction scores for pathogenic/regulatory variant classification beyond protein-coding region. VannoPortal focuses more on interpretability of variant annotations using many intuitive visualizations and interactive web components.

Genome-scale Human Genetic Variation Annotation and Interpretation

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