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.
   

Enlaces de Interes:

 
INFORMACIÓN DE CONTACTO:
Instituto de Investigación de Enfermedades Raras (IIER)
Pabellón 11 Monforte de Lemos 5 28029 Madrid
Para más información, contactar: registro.raras@isciii.es  
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