Assessing Molecular Pathogenicity for Rare Diseases

The ELIXIR Service Bundle "Assessing Molecular Pathogenicity for Rare Diseases" (AMP4RD) aims to define the procedures and guidelines for the annotation and interpretation of genetic variants in the human genome. Our initiative aims to implement an integrated infrastructure for characterizing the relationship between genotype and phenotype both from the clinical and research perspectives, and  deliver computing workflows and tools for the annotation and interpretation of genetic variants.