TOOLS

 
  • Phenotips : a software tool for collecting and analyzing phenotypic information of patients with genetic disorders.
  • PhenomeCentral: a repository for clinicians and scientists working in the rare disorder community.
  • Monarch Initiative builds and maintains a curated knowledge base that links genotype-phenotype associations across a large number of species (including humans).
  • Exomiser software package annotates, filters, and prioritizes variants in a patient’s exome based on their phenotype (encoded using the HPO). PhenomeCentral depends on the Exomiser to analyze exome sequence data and prioritize genes for genomic matching
  • Human Phenotype Ontology (HPO) a standardized vocabulary of phenotypic abnormalities encountered in human disease.
  • Matchmaker exchange (MME) conects doctors working in rare diseases with researchers to facilitate the sharing of data of undiagnosed patients to be able to discover new genes.  
  • Mendelian: Genetic Rare Disease Search Tool 


 

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