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Alzheimer's disease is the most common cause of dementia. It is the fifth-leading cause of death among elderly people. With high genetic heritability (79%), finding disease causal genes is a crucial step in find treatment for AD. Following…
Liver cirrhosis is a major global health problem causing millions of deaths annually, and timely detection with aggressive treatment can significantly improve patients' quality of life. Modelling complex diseases from biomedical data is…
Embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) derived from somatic cells (SCs) provide promising resources for regenerative medicine and medical research, leading to a daily identification of new cell lines.…
Histology imaging is an important tool in medical diagnosis and research, enabling the examination of tissue structure and composition at the microscopic level. Understanding the underlying molecular mechanisms of tissue architecture is…
Alzheimer's disease (AD) is a complex neurodegenerative disorder that affects millions of people worldwide. Due to the heterogeneous nature of AD, its diagnosis and treatment pose critical challenges. Consequently, there is a growing…
Sepsis is a life threatening medical condition that occurs when the body has an extreme response to infection, leading to widespread inflammation, organ failure, and potentially death. Because sepsis can worsen rapidly, early detection is…
Approximately over 50 million people worldwide suffer from epilepsy. Traditional diagnosis of epilepsy relies on tedious visual screening by highly trained clinicians from lengthy EEG recording that contains the presence of seizure (ictal)…
Antimicrobial resistance is an emerging global health crisis that is undermining advances in modern medicine and, if unmitigated, threatens to kill 10 million people per year worldwide by 2050. Research over the last decade has demonstrated…
Cancer progresses with a change in the structure of the gene network in normal cells. We define a measure of organizational hierarchy in gene networks of affected cells in adult acute myeloid leukemia (AML) patients. With a retrospective…
Background: Stroke is second-leading cause of disability and death among adults. Approximately 17 million people suffer from a stroke annually, with about 85% being ischemic strokes. Predicting mortality of ischemic stroke patients in…
Advances in large language models (LLMs) have encouraged their adoption in the healthcare domain where vital clinical information is often contained in unstructured notes. Cancer staging status is available in clinical reports, but it…
Genome-wide association studies have become increasingly common due to advances in technology and have permitted the identification of differences in single nucleotide polymorphism (SNP) alleles that are associated with diseases. However,…
DNA methylation is a crucial regulator of gene transcription and has been linked to various diseases, including autoimmune diseases and cancers. However, diagnostics based on DNA methylation face challenges due to large feature sets and…
Introduction: The HAS conducted a study in 2018 using the French National Health Data System (SNDS) on the care pathway of patients with epilepsy. This study used 2 algorithms to identify patients with epilepsy, based on hospitalization for…
Atherosclerosis is an inflammatory disease characterised by the formation of plaques, which are deposits of lipids and cholesterol-laden macrophages that form in the artery wall. The inflammation is often non-resolving, due in large part to…
The detection of new or enlarged white-matter lesions in multiple sclerosis is a vital task in the monitoring of patients undergoing disease-modifying treatment for multiple sclerosis. However, the definition of 'new or enlarged' is not…
Diseases involve complex processes and modifications to the cellular machinery. The gene expression profile of the affected cells contains characteristic patterns linked to a disease. Hence, biological knowledge pertaining to a disease can…
We present a systematic study of medical-domain interpretability in Large Language Models (LLMs). We study how the LLMs both represent and process medical knowledge through four different interpretability techniques: (1) UMAP projections of…
Approximately, 50 million people in the world are affected by epilepsy. For patients, the anti-epileptic drugs are not always useful and these drugs may have undesired side effects on a patient's health. If the seizure is predicted the…
Motivation: In spite of great success of genome-wide association studies (GWAS), multiple challenges still remain. First, complex traits are often associated with many single nucleotide polymorphisms (SNPs), each with small or moderate…