PhenoSS: Phenotype semantic similarity-based approach for rare disease prediction and patient clustering
PhenoSS provides a statistically interpretable framework for modeling phenotypic heterogeneity in rare disease research and is adaptable to other structured clinical vocabularies such as SNOMED-CT and ICD codes.
Authors
- Cong Liu (ORCID: https://orcid.org/0000-0002-8664-6931)
- Chunhua Weng
- Shihan Chen
- Kai Wang
- Quan Minh Nguyen
- Yu Hu
Institutions
- Boston Children's Hospital (US)
- Children's Hospital of Philadelphia (US)
- Harvard University (US)
- Columbia University Irving Medical Center (US)
- Bioengineering Center (RU)
- Columbia University (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- medRxiv
- Published
- 2026-03-02
- DOI
- https://doi.org/10.64898/2026.02.26.26347219
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institutes of Health
- Intellectual and Developmental Disabilities Research Center