Article

Diagnosis and Screening of Velocardiofacial Syndrome by Evaluating Facial Photographs Using a Deep Learning-Based Algorithm

2023-03-06

Abstract excerpt

<h4>Purpose: </h4> The early detection and diagnosis of rare genetic diseases are crucial for maintaining patient health and well-being. However, the diagnosis of said diseases can be challenging owing to their rarity, limited clinical experience of physicians, and specialized facilities required for diagnosis. In recent years, deep learning algorithms have been investigated as a potential strategy for the efficie...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 2cc7e0c7-03cf-53dc-91c9-bc5c23927f66
DOI: 10.21203/rs.3.rs-2601333/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Diagnosis and Screening of Velocardiofacial Syndrome by Evaluating Facial Photographs Using a Deep Learning-Based AlgorithmDOI 10.21203/rs.3.rs-2601333/v1Read

A Deep-Learning-Based Method Can Detect Both Common and Rare Genetic Disorders in Fetal UltrasoundSemantic proximity Read

Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.Semantic proximity Read

Comparing facial feature extraction methods in the diagnosis of rare genetic syndromesSemantic proximity Read

The Two-Stage Ensemble Learning Model Based on Aggregated Facial Features in Screening for Fetal Genetic DiseasesSemantic proximity Read

Computational facial analysis for rare Mendelian disorders.Semantic proximity Read

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study.Semantic proximity Read

An Innovative Three-Stage Model for Prenatal Genetic Disorder Detection Based on Region-of-Interest in Fetal UltrasoundSemantic proximity Read

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian populationSemantic proximity Read

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.Semantic proximity Read

The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.Semantic proximity Read

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.Semantic proximity Read

Diagnostically relevant facial gestalt information from ordinary photos.Semantic proximity Read