GitHub / cmbi / metadome

MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.

JSON API: https://repos.ecosyste.ms/api/v1/hosts/GitHub/repositories/cmbi%2Fmetadome

Topics: domain-homology, gene-annotation, genes, genetic-tolerance, genetics, pathogenic-variants, pathogenicity, protein-annotation, protein-domains, proteins, variant-annotations, variant-interpretation

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