Prediction of Genotype Positivity in Patients With Hypertrophic Cardiomyopathy Using Machine Learning.

ABSTRACT:

Background

Genetic testing can determine family screening strategies and has prognostic and diagnostic value in hypertrophic cardiomyopathy (HCM). However, it can also pose a significant psychosocial burden. Conventional scoring systems offer modest ability to predict genotype positivity. The aim of our study was to develop a novel prediction model for genotype positivity in patients with HCM by applying machine learning (ML) algorithms.

Methods

We constructed 3 ML models using readily available clinical and cardiac imaging data of 102 patients from Columbia University with HCM who had undergone genetic testing (the training set). We validated model performance on 76 patients with HCM from Massachusetts General Hospital (the test set). Within the test set, we compared the ar

SUBMITTER: Liang LW 

PROVIDER: S-EPMC8206028 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature