Evaluating resources composing the PheMAP knowledge base to enhance high-throughput phenotyping.

ABSTRACT:

Objective

A previous study, PheMAP, combined independent, online resources to enable high-throughput phenotyping (HTP) using electronic health records (EHRs). However, online resources offer distinct quality descriptions of diseases which may affect phenotyping performance. We aimed to evaluate the phenotyping performance of single resource-based PheMAPs and investigate an optimized strategy for HTP.

Materials and methods

We compared how each resource produced top-ranked concept unique identifiers (CUIs) by term frequency-inverse document frequency with Jaccard matrices comparing single resources and the original PheMAP. We correlated top-ranked concepts from each resource to features used in established Phenotype KnowledgeBase (PheKB) algorithms for hypothyroidism, type II

SUBMITTER: Wan NC 

PROVIDER: S-EPMC9933070 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature