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Menu
  • Home
  • SpainUDP
    • Information
    • Objectives
    • SpainUDP Team
    • Steps to Follow
    • Tools
  • Collaborations
    • INTERNATIONAL
      • UDNI
      • IRUD Program
      • RD-CONNECT
      • SOLVE-RD
      • WILHEM FOUNDATION
      • BLACKSWAN FOUNDATION
    • NATIONAL
      • FEDER
      • D’GENES
  • Access to the Program
  • Contact
  • Intranet
  • Patients

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 

 

  • 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.

 

 

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