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

 

 

  • 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 

 

  • MARRVEL (Model organism Aggregated Resources for Rare Variant ExpLoration) aims to facilitate the use of public genetic resources to prioritize rare human gene variants for study in model organisms.