Related papers: GREGoR: Accelerating Genomics for Rare Diseases
In genetic studies of complex diseases, the underlying mode of inheritance is often not known. Thus, the most powerful test or other optimal procedure for one model, e.g. recessive, may be quite inefficient if another model, e.g. dominant,…
The language commonly used in human genetics can inadvertently pose problems for multiple reasons. Terms like "ancestry", "ethnicity", and other ways of grouping people can have complex, often poorly understood, or multiple meanings within…
Rare diseases represent the long tail of medical imaging, where AI models often fail due to the scarcity of representative training data. In clinical workflows, radiologists frequently consult case reports and literature when confronted…
Genome data are crucial in modern medicine, offering significant potential for diagnosis and treatment. Thanks to technological advancements, many millions of healthy and diseased genomes have already been sequenced; however, obtaining the…
Glaucoma is the leading cause of irreversible blindness in people over the age of 60, accounting for 6.6 to 8% of all blindness in 2010, but there is still much to be learned about the genetic origins of the eye disease. With the modern…
The causal relationships between biomarkers are essential for disease diagnosis and medical treatment planning. One notable application is Alzheimer's disease (AD) diagnosis, where certain biomarkers may influence the presence of others,…
Recent advances in high-throughput genomics technologies have resulted in the sequencing of large numbers of (near) complete genomes. These genome sequences are being mined for important functional elements, such as genes. They are also…
Rare cardiac anomalies are difficult to detect from electrocardiograms (ECGs) due to their long-tailed distribution with extremely limited case counts and demographic disparities in diagnostic performance. These limitations contribute to…
Rare diseases have extremely low-data regimes, unlike common diseases with large amount of available labeled data. Hence, to train a neural network to classify rare diseases with a few per-class data samples is very challenging, and so far,…
Genomics is changing our understanding of humans, evolution, diseases, and medicines to name but a few. As sequencing technology is developed collecting DNA sequences takes less time thereby generating more genetic data every day. Today the…
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…
Genetic association data from national biobanks and large-scale association studies have provided new prospects for understanding the genetic evolution of complex traits and diseases in humans. In turn, genomes from ancient human…
Rare diseases pose significant challenges in diagnosis and treatment due to their low prevalence and heterogeneous clinical presentations. Unstructured clinical notes contain valuable information for identifying rare diseases, but manual…
Large scale databases are available that contain homologous gene families constructed from hundreds of complete genome sequences from across the three domains of Life. Here we discuss approches of increasing complexity aimed at extracting…
The vast majority of connections between complex disease and common genetic variants were identified through meta-analysis, a powerful approach that enables large samples sizes while protecting against common artifacts due to population…
Background: While the importance of gene-gene interactions in human diseases has been well recognized, identifying them has been a great challenge, especially through association studies with millions of genetic markers and thousands of…
Lyme disease is a rapidly growing illness that remains poorly understood within the medical community. Critical questions about when and why patients respond to treatment or stay ill, what kinds of treatments are effective, and even how to…
With the advent of high-throughput sequencing technologies, the fields of immunogenomics and adaptive immune receptor repertoire research are facing both opportunities and challenges. Adaptive immune receptor repertoire sequencing…
In the field of health-care and bio-medical research, understanding the relationship between the symptoms of diseases is crucial for early diagnosis and determining hidden relationships between diseases. The study aimed to understand the…
In recent years, we have witnessed a dramatic data explosion in genomics, thanks to the improvement in sequencing technologies and the drastically decreasing costs. We are entering the era of millions of available genomes. Notably, each…