Supervised contrastive learning (SupCon) has proven to be a powerful alternative to the standard cross-entropy loss for classification of multi-class balanced datasets. However, it struggles to learn well-conditioned representations of datasets with long-tailed class distributions. This problem is potentially exacerbated for binary imbalanced distributions, which are commonly encountered during many real-world problems such as medical diagnosis. In experiments on seven binary datasets of natural and medical images, we show that the performance of SupCon decreases with increasing class imbalance. To substantiate these findings, we introduce two novel metrics that evaluate the quality of the learned representation space. By measuring the class distribution in local neighborhoods, we are able to uncover structural deficiencies of the representation space that classical metrics cannot detect. Informed by these insights, we propose two new supervised contrastive learning strategies tailored to binary imbalanced datasets that improve the structure of the representation space and increase downstream classification accuracy over standard SupCon by up to 35%. We make our code available.1

Cardiovascular diseases (CVD) can be diagnosed using various diagnostic modalities. The electrocardiogram (ECG) is a cost-effective and widely available diagnostic aid that provides functional information of the heart. However, its ability to classify and spatially localise CVD is limited. In contrast, cardiac magnetic resonance (CMR) imaging provides detailed structural information of the heart and thus enables evidence-based diagnosis of CVD, but long scan times and high costs limit its use in clinical routine. In this work, we present a deep learning strategy for cost-effective and comprehensive cardiac screening solely from ECG. Our approach combines multimodal contrastive learning with masked data modelling to transfer domain-specific information from CMR imaging to ECG representations. In extensive experiments using data from 40,044 UK Biobank subjects, we demonstrate the utility and generalisability of our method for subject-specific risk prediction of CVD and the prediction of cardiac phenotypes using only ECG data. Specifically, our novel multimodal pre-training paradigm improves performance by up to 12.19% for risk prediction and 27.59% for phenotype prediction. In a qualitative analysis, we demonstrate that our learned ECG representations incorporate information from CMR image regions of interest. Our entire pipeline is publicly available at https://github.com/oetu/MMCL-ECG-CMR.

Cardiac magnetic resonance (CMR) imaging is the gold standard for non-invasive cardiac assessment, offering rich spatio-temporal views of the heart’s anatomy and physiology. Patient-level health factors, such as demographics, metabolic, and lifestyle, are known to substantially influence cardiovascular health and disease risk, yet remain uncaptured by CMR alone. To holistically understand cardiac health and to enable the best possible interpretation of an individual’s disease risk, CMR and patient-level factors must be jointly exploited within an integrated framework. Recent multi-modal approaches have begun to bridge this gap, yet they often rely on limited spatio-temporal data and focus on isolated clinical tasks, thereby hindering the development of a comprehensive representation for cardiac/health evaluation. To overcome these limitations, we introduce ViTa , a step toward foundation models that delivers a comprehensive representation of the heart and a precise interpretation of individual disease risk. Leveraging data from 42,000 UK Biobank participants, ViTa integrates 3D+T cine stacks from short-axis and long-axis views, enabling a complete capture of the cardiac cycle. These imaging data are then fused with detailed tabular patient-level factors, enabling context-aware insights. This multi-modal paradigm supports a wide spectrum of downstream tasks, including cardiac phenotype and physiological feature prediction, segmentation, and classification of cardiac/metabolic diseases within a single unified framework. By learning a shared latent representation that bridges rich imaging features and patient context, ViTa moves beyond traditional, task-specific models toward a universal, patient-specific understanding of cardiac health, highlighting its potential to advance clinical utility and scalability in cardiac analysis. 2

Medical datasets and especially biobanks, often contain extensive tabular data with rich clinical information in addition to images. In practice, clinicians typically have less data, both in terms of diversity and scale, but still wish to deploy deep learning solutions. Combined with increasing medical dataset sizes and expensive annotation costs, the necessity for unsupervised methods that can pretrain multimodally and predict unimodally has risen. To address these needs, we propose the first self-supervised contrastive learning framework that takes advantage of images and tabular data to train unimodal encoders. Our solution combines SimCLR and SCARF, two leading contrastive learning strategies, and is simple and effective. In our experiments, we demonstrate the strength of our framework by predicting risks of myocardial infarction and coronary artery disease (CAD) using cardiac MR images and 120 clinical features from 40,000 UK Biobank subjects. Furthermore, we show the generalizability of our approach to natural images using the DVM car advertisement dataset. We take advantage of the high interpretability of tabular data and through attribution and ablation experiments find that morphometric tabular features, describing size and shape, have outsized importance during the contrastive learning process and improve the quality of the learned embeddings. Finally, we introduce a novel form of supervised contrastive learning, label as a feature (LaaF), by appending the ground truth label as a tabular feature during multimodal pretraining, outperforming all supervised contrastive baselines.11https://github.com/paulhager/MMCL-Tabular-Imaging

There is an increasing need to use genome and transcriptome sequencing to genetically diagnose patients suffering from suspected monogenic rare diseases. The proper detection of compound heterozygous variant combinations as disease-causing candidates is a challenge in diagnostic workflows as haplotype information is lost by currently used next-generation sequencing technologies. Consequently, computational tools are required to phase, or resolve the haplotype of, the high number of heterozygous variants in the exome or genome of each patient. Here we present SmartPhase, a phasing tool designed to efficiently reduce the set of potential compound heterozygous variant pairs in genetic diagnoses pipelines. The phasing algorithm of SmartPhase creates haplotypes using both parental genotype information and reads generated by DNA or RNA sequencing and is thus well suited to resolve the phase of rare variants. To inform the user about the reliability of a phasing prediction, it computes a confidence score which is essential to select error-free predictions. It incorporates existing haplotype information and applies logical rules to determine variants that can be excluded as causing a recessive, monogenic disease. SmartPhase can phase either all possible variant pairs in predefined genetic loci or preselected variant pairs of interest, thus keeping the focus on clinically relevant results. We compared SmartPhase to WhatsHap, one of the leading comparable phasing tools, using simulated data and a real clinical cohort of 921 patients. On both data sets, SmartPhase generated error-free predictions using our derived confidence score threshold. It outperformed WhatsHap with regard to the percentage of resolved pairs when parental genotype information is available. On the cohort data, SmartPhase enabled on average the exclusion of approximately 22% of the input variant pairs in each singleton patient and 44% in each trio patient. SmartPhase is implemented as an open-source Java tool and freely available at http://ibis.helmholtz-muenchen.de/smartphase/.

In many under-resourced languages it is possible to find text, and it is possible to find speech, but transcribed speech suitable for training automatic speech recognition (ASR) is unavailable. In the absence of native transcripts, this paper proposes the use of a probabilistic transcript: A probability mass function over possible phonetic transcripts of the waveform. Three sources of probabilistic transcripts are demonstrated. First, self-training is a well-established semisupervised learning technique, in which a cross-lingual ASR first labels unlabeled speech, and is then adapted using the same labels. Second, mismatched crowdsourcing is a recent technique in which nonspeakers of the language are asked to write what they hear, and their nonsense transcripts are decoded using noisy channel models of second-language speech perception. Third, EEG distribution coding is a new technique in which nonspeakers of the language listen to it, and their electrocortical response signals are interpreted to indicate probabilities. ASR was trained in four languages without native transcripts. Adaptation using mismatched crowdsourcing significantly outperformed self-training, and both significantly outperformed a cross-lingual baseline. Both EEG distribution coding and text-derived phone language models were shown to improve the quality of probabilistic transcripts derived from mismatched crowdsourcing.