Kamilia Zaripova

Yiheng Xiong, Jingsong Liu, Kamilia Zaripova et al. · deepmind

The extraction of structured clinical information from free-text radiology reports in the form of radiology graphs has been demonstrated to be a valuable approach for evaluating the clinical correctness of report-generation methods. However, the direct generation of radiology graphs from chest X-ray (CXR) images has not been attempted. To address this gap, we propose a novel approach called Prior-RadGraphFormer that utilizes a transformer model with prior knowledge in the form of a probabilistic knowledge graph (PKG) to generate radiology graphs directly from CXR images. The PKG models the statistical relationship between radiology entities, including anatomical structures and medical observations. This additional contextual information enhances the accuracy of entity and relation extraction. The generated radiology graphs can be applied to various downstream tasks, such as free-text or structured reports generation and multi-label classification of pathologies. Our approach represents a promising method for generating radiology graphs directly from CXR images, and has significant potential for improving medical image analysis and clinical decision-making.

Premt Cara, Kamilia Zaripova, David Bani-Harouni et al.

Rare genetic disease diagnosis faces critical challenges: insufficient patient data, inaccessible full genome sequencing, and the immense number of possible causative genes. These limitations cause prolonged diagnostic journeys, inappropriate treatments, and critical delays, disproportionately affecting patients in resource-limited settings where diagnostic tools are scarce. We propose RareNet, a subgraph-based Graph Neural Network that requires only patient phenotypes to identify the most likely causal gene and retrieve focused patient subgraphs for targeted clinical investigation. RareNet can function as a standalone method or serve as a pre-processing or post-processing filter for other candidate gene prioritization methods, consistently enhancing their performance while potentially enabling explainable insights. Through comprehensive evaluation on two biomedical datasets, we demonstrate competitive and robust causal gene prediction and significant performance gains when integrated with other frameworks. By requiring only phenotypic data, which is readily available in any clinical setting, RareNet democratizes access to sophisticated genetic analysis, offering particular value for underserved populations lacking advanced genomic infrastructure.

Kamilia Zaripova, Ege Özsoy, Nassir Navab et al.

Identifying causative genes from patient phenotypes remains a significant challenge in precision medicine, with important implications for the diagnosis and treatment of genetic disorders. We propose a novel graph-based approach for predicting causative genes from patient phenotypes, with or without an available list of candidate genes, by integrating a rare disease knowledge graph (KG). Our model, combining graph neural networks and transformers, achieves substantial improvements over the current state-of-the-art. On the real-world MyGene2 dataset, it attains a mean reciprocal rank (MRR) of 24.64\% and nDCG@100 of 33.64\%, surpassing the best baseline (SHEPHERD) at 19.02\% MRR and 30.54\% nDCG@100. We perform extensive ablation studies to validate the contribution of each model component. Notably, the approach generalizes to cases where only phenotypic data are available, addressing key challenges in clinical decision support when genomic information is incomplete.