VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases.

ABSTRACT: Interpreting the molecular mechanism of genomic variations and their causal relationship with diseases/traits are important and challenging problems in the human genetic study. To provide comprehensive and context-specific variant annotations for biologists and clinicians, here, by systematically integrating over 4TB genomic/epigenomic profiles and frequently-used annotation databases from various biological domains, we develop a variant annotation database, called VannoPortal. In general, the database has following major features: (i) systematically integrates 40 genome-wide variant annotations and prediction scores regarding allele frequency, linkage disequilibrium, evolutionary signature, disease/trait association, tissue/cell type-specific epigenome, base-wise functional prediction, al

SUBMITTER: Huang D 

PROVIDER: S-EPMC8728305 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature