Leveraging Collaborative Filtering to Accelerate Rare Disease Diagnosis.

In this study, we proposed a collaborative filtering system enriched with natural language processing and semantic techniques to assist rare disease diagnosis based on phenotypic characterization. Specifically, we leveraged four similarity measurements with two neighborhood algorithms on 2010-2015 Mayo Clinic unstructured large patient cohort and evaluated different approaches. Preliminary results demonstrated that the use of collaborative filtering with phenotypic information is able to stratify patients with relatively similar rare diseases. PMID: 29854225 [PubMed - indexed for MEDLINE]
Source: AMIA Annual Symposium Proceedings - Category: Bioinformatics Tags: AMIA Annu Symp Proc Source Type: research