The rapid advancement of genomic and precision medicine has expanded the role of genetics and genomics in the diagnosis, risk stratification, and management of cardiovascular diseases. With the decreasing cost and increasing accessibility of genetic ...
The corpus callosum (CC) is the largest set of white matter fibers connecting the two hemispheres of the brain. In humans, it is essential for coordinating sensorimotor responses and performing associative or executive functions. Identifying which ge...
OBJECTIVE: To investigate the interplay between the genetic predisposition to successful ageing and air pollution on lung disease in healthy aged German women under the hypothesis that ageing and lung diseases share mechanisms of oxidative stress and...
Small nucleolar RNAs (snoRNAs), a class of non-coding RNAs broadly distributed in eukaryotes, are emerging as pivotal regulators in the field of epigenomics. In addition to guiding 2'-O-methylation and pseudouridylation modifications at specific rRNA...
Recent studies have demonstrated that for various diseases, incorporating polygenic risk scores (PRSs) for other traits and diseases into the PRS-based risk prediction model may improve predictive performance - known as Multiple Polygenic Score (MPS)...
Understanding the interplay between diseases and genes is crucial for gaining deeper insights into disease mechanisms and optimizing therapeutic strategies. In recent years, various computational methods have been developed to uncover potential disea...
Alzheimer's disease (AD), the most prevalent neurodegenerative disorder, is marked by the accumulation of amyloid-β (Aβ) plaques. Although cerebral Aβ positron emission tomography (Aβ-PET) remains the gold standard for assessing cerebral Aβ burden, i...
BACKGROUND: Variants of uncertain significance (VUS) represent a major diagnostic challenge in the interpretation of genetic testing results, particularly in the context of inborn errors of immunity such as severe combined immunodeficiency (SCID). Th...
Accurate variant penetrance estimation is crucial for precision medicine. We constructed machine learning (ML) models for 10 diseases using 1,347,298 participants with electronic health records, then applied them to an independent cohort with linked ...
Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by genetic predisposition and alterations in brain structural connectivity. While existing studies have established associations between genetic variants a...
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