Nanbyo Linking

Linking of Nanbyo (rare diseases) guidelines to existing disease vocabularies

Phenotype comparison/visualization literature

• PhenoSimWeb: https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-018-4927-z

• PhenoStacks: https://d2f99xq7vri1nk.cloudfront.net/PhenoStacks_VAST2016.pdf

• PhenoLines: https://www.autodeskresearch.com/sites/default/files/PhenoLines_VAST2017.pdf

• PhenoBlocks: https://hal.inria.fr/hal-01226032/file/phenoblocks_vast2015.pdf

• Monarch Phenogrid:

  • https://github.com/monarch-initiative/phenogrid
  • https://monarchinitiative.org/page/phenogrid

Use cases

• between-databases comparison: detecting inconsistent association of gene/diseases to HPO terms
• within-database comparison: detecting structure in HPO term usage

Links for nanbyo diseases

• https://docs.google.com/spreadsheets/d/1S0BBLsJ3vjqoZHD5oUni8JQOuWGQ_H5rCHTskiigS-I/edit?usp=sharing