Related papers: GREGoR: Accelerating Genomics for Rare Diseases
Although rare diseases are characterized by low prevalence, approximately 300 million people are affected by a rare disease. The early and accurate diagnosis of these conditions is a major challenge for general practitioners, who do not…
In this work, we present our various contributions to the objective of building a decision support tool for the diagnosis of rare diseases. Our goal is to achieve a state of knowledge where the uncertainty about the patient's disease is…
Diabetes is a worldwide health issue affecting millions of people. Machine learning methods have shown promising results in improving diabetes prediction, particularly through the analysis of diverse data types, namely gene expression data.…
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…
Understanding the population structure and patterns of gene flow within species is of fundamental importance to the study of evolution. In the fields of population and evolutionary genetics, measures of genetic differentiation are commonly…
Nutrigenomics is an emerging field that explores the intricate interaction between genes and diet. This study aimed to develop a comprehensive database to help clinicians and patients understand the connections between genetic disorders,…
Human genetics offers a promising route to therapeutic discovery, yet practical frameworks translating genotype-derived signal into ranked target and drug hypotheses remain limited, particularly when matched disease transcriptomics are…
The cost of DNA sequencing has resulted in a surge of genetic data being utilised to improve scientific research, clinical procedures, and healthcare delivery in recent years. Since the human genome can uniquely identify an individual, this…
Identifying genes associated with complex human diseases is one of the main challenges of human genetics and computational medicine. To answer this question, millions of genetic variants get screened to identify a few of importance. To…
Gene prioritization (identifying genes potentially associated with a biological process) is increasingly tackled with Artificial Intelligence. However, existing methods struggle with the high dimensionality and incomplete labelling of…
The prevalence of common chronic non-communicable diseases (CNCDs) far overshadows the prevalence of both monogenic and infectious diseases combined. All CNCDs, also called complex genetic diseases, have a heritable genetic component that…
Modern disease classification often overlooks molecular commonalities hidden beneath divergent clinical presentations. This study introduces a transcriptomics-driven framework for discovering disease relationships by analyzing over 1300…
Driven by the popularity of television shows such as Who Do You Think You Are? many millions of users have uploaded their family tree to web projects such as WikiTree. Analysis of this corpus enables us to investigate genealogy…
Electrocardiogram (ECG) abnormalities are linked to cardiovascular diseases, but may also occur in other non-cardiovascular conditions such as mental, neurological, metabolic and infectious conditions. However, most of the recent success of…
Genetic mutations can cause disease by disrupting normal gene function. Identifying the disease-causing mutations from millions of genetic variants within an individual patient is a challenging problem. Computational methods which can…
Anonymized electronic medical records are an increasingly popular source of research data. However, these datasets often lack race and ethnicity information. This creates problems for researchers modeling human disease, as race and…
Rare diseases affect an estimated 300-400 million people worldwide, yet individual conditions remain underdiagnosed and poorly characterized due to their low prevalence and limited clinician familiarity. Computational phenotyping offers a…
Diabetes is currently one of the most common, dangerous, and costly diseases in the world that is caused by an increase in blood sugar or a decrease in insulin in the body. Diabetes can have detrimental effects on people's health if…
Genealogy, the study of family history and lineage, has seen tremendous growth over the past decade, fueled by technological advances such as home DNA testing and mass digitization of historical records. However, HCI research on genealogy…
Many statistical problems involve optimization over a discrete parameter space having an unknown dimension. In such settings, gradient-based methods often fail due to the non-differentiability of the objective function or a non-convex or…