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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…

Computer Vision and Pattern Recognition · Computer Science 2023-05-25 Ömer Sümer , Fabio Hellmann , Alexander Hustinx , Tzung-Chien Hsieh , Elisabeth André , Peter Krawitz

Machine learning has shown promise in facial dysmorphology, where characteristic facial features provide diagnostic clues for rare genetic disorders. GestaltMatcher, a leading framework in this field, has demonstrated clinical utility…

Machine Learning · Computer Science 2025-09-16 Ali Burak Ünal , Cem Ata Baykara , Peter Krawitz , Mete Akgün

Individuals with suspected rare genetic disorders often undergo multiple clinical evaluations, imaging studies, laboratory tests and genetic tests, to find a possible answer over a prolonged period of time. Addressing this "diagnostic…

Many rare genetic diseases exhibit recognizable facial phenotypes, which are often used as diagnostic clues. However, current facial phenotype diagnostic models, which are trained on image datasets, have high accuracy but often suffer from…

Quantitative Methods · Quantitative Biology 2025-04-21 Jie Song , Mengqiao He , Shumin Ren , Bairong Shen

Facial analysis technologies have recently measured up to the capabilities of expert clinicians in syndrome identification. To date, these technologies could only identify phenotypes of a few diseases, limiting their role in clinical…

Computer Vision and Pattern Recognition · Computer Science 2018-01-24 Yaron Gurovich , Yair Hanani , Omri Bar , Nicole Fleischer , Dekel Gelbman , Lina Basel-Salmon , Peter Krawitz , Susanne B Kamphausen , Martin Zenker , Lynne M. Bird , Karen W. Gripp

Wearing a face mask is one of the adjustments we had to follow to reduce the spread of the coronavirus. Having our faces covered by masks constantly has driven the need to understand and investigate how this behavior affects the recognition…

Computer Vision and Pattern Recognition · Computer Science 2022-10-11 Mohammed R. Al-Sinan , Aseel F. Haneef , Hamzah Luqman

In the field of face recognition, a model learns to distinguish millions of face images with fewer dimensional embedding features, and such vast information may not be properly encoded in the conventional model with a single branch. We…

Computer Vision and Pattern Recognition · Computer Science 2020-05-26 Yonghyun Kim , Wonpyo Park , Myung-Cheol Roh , Jongju Shin

Deep learning models have demonstrated remarkable results for various computer vision tasks, including the realm of medical imaging. However, their application in the medical domain is limited due to the requirement for large amounts of…

Computer Vision and Pattern Recognition · Computer Science 2023-11-14 Aryan Singh , Pepijn Van de Ven , Ciarán Eising , Patrick Denny

Rare diseases often manifest with distinctive facial phenotypes in children, offering valuable diagnostic cues for clinicians and AI-assisted screening systems. However, progress in this field is severely limited by the scarcity of curated,…

Computer Vision and Pattern Recognition · Computer Science 2026-04-07 Ganlin Feng , Yuxi Long , Hafsa Ali , Erin Lou , Fahad Butt , Qian Liu , Yang Wang , Pingzhao Hu

Deep Neural Network (DNN) has recently achieved outstanding performance in a variety of computer vision tasks, including facial attribute classification. The great success of classifying facial attributes with DNN often relies on a massive…

Computer Vision and Pattern Recognition · Computer Science 2018-05-04 Ni Zhuang , Yan Yan , Si Chen , Hanzi Wang , Chunhua Shen

Several machine learning techniques for accurate detection of skin cancer from medical images have been reported. Many of these techniques are based on pre-trained convolutional neural networks (CNNs), which enable training the models based…

Computer Vision and Pattern Recognition · Computer Science 2021-05-18 Aqsa Saeed Qureshi , Teemu Roos

Diabetic retinopathy (DR), a microvascular complication of diabetes and a leading cause of preventable blindness, is projected to affect more than 130 million individuals worldwide by 2030. Early identification is essential to reduce…

Quantitative Methods · Quantitative Biology 2025-11-12 Jophy Lin

Background: Breast cancer has the highest prevalence in women globally. The classification and diagnosis of breast cancer and its histopathological images have always been a hot spot of clinical concern. In Computer-Aided Diagnosis (CAD),…

Computer Vision and Pattern Recognition · Computer Science 2022-05-11 Yuchao Zheng , Chen Li , Xiaomin Zhou , Haoyuan Chen , Hao Xu , Yixin Li , Haiqing Zhang , Xiaoyan Li , Hongzan Sun , Xinyu Huang , Marcin Grzegorzek

Datasets are crucial when training a deep neural network. When datasets are unrepresentative, trained models are prone to bias because they are unable to generalise to real world settings. This is particularly problematic for models trained…

Computer Vision and Pattern Recognition · Computer Science 2019-12-30 Mkhuseli Ngxande , Jules-Raymond Tapamo , Michael Burke

Deep convolutional neural networks (DCNNs) have become the state-of-the-art computational models of biological object recognition. Their remarkable success has helped vision science break new ground and recent efforts have started to…

Computer Vision and Pattern Recognition · Computer Science 2023-08-22 Leonard E. van Dyck , Walter R. Gruber

Most of the achievements in artificial intelligence so far were accomplished by supervised learning which requires numerous annotated training data and thus costs innumerable manpower for labeling. Unsupervised learning is one of the…

Computer Vision and Pattern Recognition · Computer Science 2021-06-14 Mingxiang Chen , Zhanguo Chang , Haonan Lu , Bitao Yang , Zhuang Li , Liufang Guo , Zhecheng Wang

Deep Convolutional Neural Networks (DCNNs) and their variants have been widely used in large scale face recognition(FR) recently. Existing methods have achieved good performance on many FR benchmarks. However, most of them suffer from two…

Computer Vision and Pattern Recognition · Computer Science 2021-06-28 Jing Xu , Tszhang Guo , Yong Xu , Zenglin Xu , Kun Bai

We present a minimalistic but effective neural network that computes dense facial correspondences in highly unconstrained RGB images. Our network learns a per-pixel flow and a matchability mask between 2D input photographs of a person and…

Computer Vision and Pattern Recognition · Computer Science 2017-09-05 Ronald Yu , Shunsuke Saito , Haoxiang Li , Duygu Ceylan , Hao Li

Deep learning has transformed computer vision but relies heavily on large labeled datasets and computational resources. Transfer learning, particularly fine-tuning pretrained models, offers a practical alternative; however, models…

Computer Vision and Pattern Recognition · Computer Science 2025-05-23 Iván Matas , Carmen Serrano , Miguel Nogales , David Moreno , Lara Ferrándiz , Teresa Ojeda , Begoña Acha

Retrieving gene functional networks from knowledge databases presents a challenge due to the mismatch between disease networks and subtype-specific variations. Current solutions, including statistical and deep learning methods, often fail…

Machine Learning · Computer Science 2025-02-25 Ziwei Yang , Zheng Chen , Xin Liu , Rikuto Kotoge , Peng Chen , Yasuko Matsubara , Yasushi Sakurai , Jimeng Sun
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