PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.
Elizabeth WohlerRenan MartinSean GriffithEliete da S RodriguesCorina AntonescuJennifer E PoseyZeynep Coban-AkdemirShalini N JhangianiKimberly F DohenyJames R LupskiDavid ValleAda HamoshNara Lygia de Macena SobreiraPublished in: Orphanet journal of rare diseases (2021)
Each of these tools has facilitated worldwide data sharing and data analysis and improved our ability to connect genes to phenotypic traits. Further development of these platforms will expand variant analysis, interpretation, novel disease-gene discovery and facilitate functional annotation of the human genome for clinical genomics implementation and the precision medicine initiative.