Artificial intelligence (AI) is increasingly used in genomics research and practice, and generative AI has garnered significant recent attention. In clinical applications of generative AI, aspects of the underlying datasets can impact results, and confounders should be studied and mitigated. One example involves the facial expressions of people with genetic conditions. Stereotypically, Williams (WS) and Angelman (AS) syndromes are associated with a "happy" demeanor, including a smiling expression. Clinical geneticists may be more likely to identify these conditions in images of smiling individuals. To study the impact of facial expression, we analyzed publicly available facial images of approximately 3500 individuals with genetic conditions. Using a deep learning (DL) image classifier, we found that WS and AS images with non-smiling expressions had significantly lower prediction probabilities for the correct syndrome labels than those with smiling expressions. This was not seen for 22q11.2 deletion and Noonan syndromes, which are not associated with a smiling expression. To further explore the effect of facial expressions, we computationally altered the facial expressions for these images. We trained HyperStyle, a GAN-inversion technique compatible with StyleGAN2, to determine the vector representations of our images. Then, following the concept of InterfaceGAN, we edited these vectors to recreate the original images in a phenotypically accurate way but with a different facial expression. Through online surveys and an eye-tracking experiment, we examined how altered facial expressions affect the performance of human experts. We overall found that facial expression is associated with diagnostic accuracy variably in different genetic conditions.

Recognising continuous emotions and action unit (AU) intensities from face videos, requires a spatial and temporal understanding of expression dynamics. Existing works primarily rely on 2D face appearance features to extract such dynamics. This work focuses on a promising alternative based on parametric 3D face alignment models, which disentangle different factors of variation, including expression-induced shape variations. We aim to understand how expressive 3D face shapes are in estimating valence-arousal and AU intensities compared to the state-of-the-art 2D appearance-based models. We benchmark five recent 3D face models: ExpNet, 3DDFA-V2, RingNet, DECA, and EMOCA. In valence-arousal estimation, expression features of 3D face models consistently surpassed previous works and yielded an average concordance correlation of. 745 and. 574 on SEWA and AVEC 2019 CES corpora, respectively. We also study how 3D face shapes performed on AU intensity estimation on BP4D and DISFA datasets, and report that 3D face features were on par with 2D appearance features in recognising AUs 4, 6, 10, 12, and 25, but not the entire set of AUs. To understand this discrepancy, we conduct a correspondence analysis between valence-arousal and AUs, which points out that accurate prediction of valence-arousal may require the knowledge of only a few AUs.

Rare genetic disorders affect more than 6% of the global population. Reaching a diagnosis is challenging because rare disorders are very diverse. Many disorders have recognizable facial features that are hints for clinicians to diagnose patients. Previous work, such as GestaltMatcher, utilized representation vectors produced by a DCNN similar to AlexNet to match patients in high-dimensional feature space to support "unseen" ultra-rare disorders. However, the architecture and dataset used for transfer learning in GestaltMatcher have become outdated. Moreover, a way to train the model for generating better representation vectors for unseen ultra-rare disorders has not yet been studied. Because of the overall scarcity of patients with ultra-rare disorders, it is infeasible to directly train a model on them. Therefore, we first analyzed the influence of replacing GestaltMatcher DCNN with a state-of-the-art face recognition approach, iResNet with ArcFace. Additionally, we experimented with different face recognition datasets for transfer learning. Furthermore, we proposed test-time augmentation, and model ensembles that mix general face verification models and models specific for verifying disorders to improve the disorder verification accuracy of unseen ultra-rare disorders. Our proposed ensemble model achieves state-of-the-art performance on both seen and unseen disorders. Code is available at github.com/igsb/GestaltMatcher-Arc.

Student engagement is a key component of learning and teaching, resulting in a plethora of automated methods to measure it. Whereas most of the literature explores student engagement analysis using computer-based learning often in the lab, we focus on using classroom instruction in authentic learning environments. We collected audiovisual recordings of secondary school classes over a one and a half month period, acquired continuous engagement labeling per student (N=15) in repeated sessions, and explored computer vision methods to classify engagement from facial videos. We learned deep embeddings for attentional and affective features by training Attention-Net for head pose estimation and Affect-Net for facial expression recognition using previously-collected large-scale datasets. We used these representations to train engagement classifiers on our data, in individual and multiple channel settings, considering temporal dependencies. The best performing engagement classifiers achieved student-independent AUCs of .620 and .720 for grades 8 and 12, respectively, with attention-based features outperforming affective features. Score-level fusion either improved the engagement classifiers or was on par with the best performing modality. We also investigated the effect of personalization and found that only 60 seconds of person-specific data, selected by margin uncertainty of the base classifier, yielded an average AUC improvement of .084.

This paper addresses the problem of understanding joint attention in third-person social scene videos. Joint attention is the shared gaze behaviour of two or more individuals on an object or an area of interest and has a wide range of applications such as human-computer interaction, educational assessment, treatment of patients with attention disorders, and many more. Our method, Attention Flow, learns joint attention in an end-to-end fashion by using saliency-augmented attention maps and two novel convolutional attention mechanisms that determine to select relevant features and improve joint attention localization. We compare the effect of saliency maps and attention mechanisms and report quantitative and qualitative results on the detection and localization of joint attention in the VideoCoAtt dataset, which contains complex social scenes.

Human pose analysis is presently dominated by deep convolutional networks trained with extensive manual annotations of joint locations and beyond. To avoid the need for expensive labeling, we exploit spatiotemporal relations in training videos for self-supervised learning of pose embeddings. The key idea is to combine temporal ordering and spatial placement estimation as auxiliary tasks for learning pose similarities in a Siamese convolutional network. Since the self-supervised sampling of both tasks from natural videos can result in ambiguous and incorrect training labels, our method employs a curriculum learning idea that starts training with the most reliable data samples and gradually increases the difficulty. To further refine the training process we mine repetitive poses in individual videos which provide reliable labels while removing inconsistencies. Our pose embeddings capture visual characteristics of human pose that can boost existing supervised representations in human pose estimation and retrieval. We report quantitative and qualitative results on these tasks in Olympic Sports, Leeds Pose Sports and MPII Human Pose datasets.

This study compares the performance of local binary patterns (LBP) and scale invariant feature transform (SIFT) with support vector machines (SVM) in automatic classification of discrete facial expressions. Facial expression recognition is a multiclass classification problem and seven classes; happiness, anger, sadness, disgust, surprise, fear and comtempt are classified. Using SIFT feature vectors and linear SVM, 93.1% mean accuracy is acquired on CK+ database. On the other hand, the performance of LBP-based classifier with linear SVM is reported on SFEW using strictly person independent (SPI) protocol. Seven-class mean accuracy on SFEW is 59.76%. Experiments on both databases showed that LBP features can be used in a fairly descriptive way if a good localization of facial points and partitioning strategy are followed.