Facilitating the Molecular Diagnosis of Rare Genetic Disorders Through Facial Phenotypic Scores

Abstract

AbstractWith recent advances in computer vision, many applications based on artificial intelligence have been developed to facilitate the diagnosis of rare genetic disorders through the analysis of patients’ two‐dimensional frontal images. Some of these have been implemented on online platforms with user‐friendly interfaces and provide facial analysis services, such as Face2Gene. However, users cannot run the facial analysis processes in house because the training data and the trained models are unavailable. This article therefore provides an introduction, designed for users with programming backgrounds, to the use of the open‐source GestaltMatcher approach to run facial analysis in their local environment. The Basic Protocol provides detailed instructions for applying for access to the trained models and then performing facial analysis to obtain a prediction score for each of the 595 genes in the GestaltMatcher Database. The prediction results can then be used to narrow down the search space of disease‐causing mutations or further connect with a variant‐prioritization pipeline. © 2023 The Authors. Current Protocols published by Wiley Periodicals LLC.Basic Protocol: Using the open‐source GestaltMatcher approach to perform facial analysis