How to use PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases

PubCaseFinder(Original paper:PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases.) is a diagnosis assistant system for rare diseases based on phenotypic similarity. This video explains the basic usage of PubCaseFinder. Please try PubCaseFinder to search for rare diseases and case reports.

見どころダイジェスト

  • 00:33 1. Input signs or symptoms to search for disease.
  • 01:20 2. Obtain a list of diseases.
  • 01:28 3. Obtain a list of published case reports.
  • 01:57 4. Obtain the detailed contextual information on the presence of disease phenotype associations in case reports.
  • 02:33 5. Narrow down the diseases by using disease-gene association.
  • 03:01 6. Upload a file to input a list of phenotype or genes.

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190405_pubcasefinder_en.mov

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