Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic Disorders Ömer SÜMERa1 Fabio HELLMANNa Alexander HUSTINXb

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Few-Shot Meta-Learning for Recognizing
Facial Phenotypes of Genetic Disorders
Ömer SÜMER a,1, Fabio HELLMANN a, Alexander HUSTINX b,
Tzung-Chien HSIEH b, Elisabeth ANDRÉ a, and Peter KRAWITZ b
aChair for Human-Centered Artificial Intelligence, University of Augsburg
bInstitute for Genomic Statistics and Bioinformatics, University of Bonn
Abstract. Computer vision-based methods have valuable use cases in precision
medicine, and recognizing facial phenotypes of genetic disorders is one of them.
Many genetic disorders are known to affect faces’ visual appearance and geometry.
Automated classification and similarity retrieval aid physicians in decision-making
to diagnose possible genetic conditions as early as possible. Previous work has ad-
dressed the problem as a classification problem and used deep learning methods.
The challenging issue in practice is the sparse label distribution and huge class
imbalances across categories. Furthermore, most disorders have few labeled sam-
ples in training sets, making representation learning and generalization essential to
acquiring a reliable feature descriptor. In this study, we used a facial recognition
model trained on a large corpus of healthy individuals as a pre-task and transferred
it to facial phenotype recognition. Furthermore, we created simple baselines of few-
shot meta-learning methods to improve our base feature descriptor. Our quantita-
tive results on GestaltMatcher Database show that our CNN baseline surpasses pre-
vious works, including GestaltMatcher, and few-shot meta-learning strategies im-
prove retrieval performance in frequent and rare classes.
Keywords. Facial genetics, rare genetic disorders, image analysis, few-shot
learning, meta-learning, imbalanced data, deep learning
1. Introduction
Genetic disorders affect more than 5% of the population [1]; in practice, physicians might
fail to spot and clinically diagnose most of them. There is a set of genetic conditions
and 30-40% of them are known to affect craniofacial development and facial morphol-
ogy [2]. The alterations in the face and skull can be recognized by using computer vision.
The output of computer vision-based systems can support physicians in diagnosing rare
syndromes and eventually lead to therapeutic interventions.
The number of samples in real-life situations and databases shows considerable vari-
ation across disorders. This makes training deep convolutional networks not feasible, as
in any object classification task. The nature of the problem necessitates addressing data
imbalance and few-shot classification in facial phenotype analysis.
This paper presents an approach to improve the baseline for unseen facial genetic
disorders based on a highly imbalanced distribution of disorders.
1Corresponding Author: Ömer Sümer, oemer.suemer@informatik.uni-augsburg.de
arXiv:2210.12705v2 [cs.CV] 24 May 2023
摘要:

Few-ShotMeta-LearningforRecognizingFacialPhenotypesofGeneticDisordersÖmerSÜMERa,1,FabioHELLMANNa,AlexanderHUSTINXb,Tzung-ChienHSIEHb,ElisabethANDRÉa,andPeterKRAWITZbaChairforHuman-CenteredArtificialIntelligence,UniversityofAugsburgbInstituteforGenomicStatisticsandBioinformatics,UniversityofBonnAbstr...

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分类:图书资源 价格:10玖币 属性:5 页 大小:156.17KB 格式:PDF 时间:2025-05-06

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