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Organs-at-risk (OAR) delineation in computed tomography (CT) is an important step in Radiation Therapy (RT) planning. Recently, deep learning based methods for OAR delineation have been proposed and applied in clinical practice for separate…
Clinical notes often describe the most important aspects of a patient's physiology and are therefore critical to medical research. However, these notes are typically inaccessible to researchers without prior removal of sensitive protected…
Patients with rare neurological diseases report cognitive symptoms -"brain fog"- invisible to traditional tests. We propose continuous neurocognitive monitoring via smartphone speech analysis integrated with Relational Graph Transformer…
Physician-physician discussions of patient cases represent a rich source of clinical knowledge and reasoning that could feed AI agents to enrich and even participate in subsequent interactions. However, privacy regulations and ethical…
Classifying fine-grained ischemic stroke phenotypes relies on identifying important clinical information. Radiology reports provide relevant information with context to determine such phenotype information. We focus on stroke phenotypes…
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,…
The use of networks to integrate different genetic, proteomic, and metabolic datasets has been proposed as a viable path toward elucidating the origins of specific diseases. Here we introduce a new phenotypic database summarizing…
Electronic health records (EHR) offer unprecedented opportunities for in-depth clinical phenotyping and prediction of clinical outcomes. Combining multiple data sources is crucial to generate a complete picture of disease prevalence,…
While previous studies have demonstrated the potential of AI to diagnose diseases in imaging data, clinical implementation is still lagging behind. This is partly because AI models require training with large numbers of examples only…
In the last decades, large datasets of fundus photographs have been collected in diabetic retinopathy (DR) screening networks. Through deep learning, these datasets were used to train automatic detectors for DR and a few other frequent…
The discovery of disease subtypes is an essential step for developing precision medicine, and disease subtyping via omics data has become a popular approach. While promising, subtypes obtained from existing approaches are not necessarily…
Medical information extraction consists of a group of natural language processing (NLP) tasks, which collaboratively convert clinical text to pre-defined structured formats. Current state-of-the-art (SOTA) NLP models are highly integrated…
Deep learning is currently the state-of-the-art for automated detection of referable diabetic retinopathy (DR) from color fundus photographs (CFP). While the general interest is put on improving results through methodological innovations,…
Studying phenotype-gene association can uncover mechanism of diseases and develop efficient treatments. In complex disease where multiple phenotypes are available and correlated, analyzing and interpreting associated genes for each…
Clinical notes containing valuable patient information are written by different health care providers with various scientific levels and writing styles. It might be helpful for clinicians and researchers to understand what information is…
The automation of the medical evidence acquisition and diagnosis process has recently attracted increasing attention in order to reduce the workload of doctors and democratize access to medical care. However, most works proposed in the…
Frontier AI models demonstrate formidable breadth of knowledge. But how close are they to true human -- or superhuman -- expertise? Genuine experts can tackle the hardest problems and push the boundaries of scientific understanding. To…
Although DNA foundation models have advanced the understanding of genomes, they still face significant challenges in the limited scale and diversity of genomic data. This limitation starkly contrasts with the success of natural language…
Monitoring the health status of patients in the Intensive Care Unit (ICU) is a critical aspect of providing superior care and treatment. The availability of large-scale electronic health records (EHR) provides machine learning models with…
Histopathological images contain abundant phenotypic information and pathological patterns, which are the gold standards for disease diagnosis and essential for the prediction of patient prognosis and treatment outcome. In recent years,…