相关论文: Human Genome data analyzed by an evolutionary meth…
Mapping human genetic variation is fundamentally interesting in fields such as anthropology and forensic inference. At the same time patterns of genetic diversity confound efforts to determine the genetic basis of complex disease. Due to…
Schizophrenia is a debilitating, chronic mental disorder that significantly impacts an individual's cognitive abilities, behavior, and social interactions. It is characterized by subtle morphological changes in the brain, particularly in…
Hypertension is the leading global cause of cardiovascular disease and premature death. Distinct hypertension subtypes may vary in their prognoses and require different treatments. An individual's risk for hypertension is determined by…
Neurological diseases are the leading global cause of disability, yet most lack disease-modifying treatments. We present PROTON, a heterogeneous graph transformer that generates testable hypotheses across molecular, organoid, and clinical…
The biological processes involved in a drug's mechanisms of action are oftentimes dynamic, complex and difficult to discern. Time-course gene expression data is a rich source of information that can be used to unravel these complex…
Migraine is a common but complex neurological disorder that doubles the lifetime risk of cryptogenic stroke (CS). However, this relationship remains poorly characterized, and few clinical guidelines exist to reduce this associated risk. We…
Parkinson's disease is a neurological condition that occurs in nearly 1% of the world's population. The disease is manifested by a drop in dopamine production, symptoms are cognitive and behavioural and include a wide range of personality…
The birth of new genes is an important motor of evolutionary innovation. Whereas many new genes arise by gene duplication, others originate at genomic regions that do not contain any gene or gene copy. Some of these newly expressed genes…
Structured internal representations (cognitive maps) shape cognition, from imagining the future and counterfactual past, to transferring knowledge to new settings. Our understanding of how such representations are formed and maintained in…
It is tempting to believe that we now own the genome. The ability to read and re-write it at will has ushered in a stunning period in the history of science. Nonetheless, there is an Achilles heel exposed by all of the genomic data that has…
Schizophrenia (SZ) is a prevalent mental disorder characterized by cognitive, emotional, and behavioral changes. Symptoms of SZ include hallucinations, illusions, delusions, lack of motivation, and difficulties in concentration. Diagnosing…
Disease heterogeneity has been a critical challenge for precision diagnosis and treatment, especially in neurologic and neuropsychiatric diseases. Many diseases can display multiple distinct brain phenotypes across individuals, potentially…
The widely used genetic pleiotropic analysis of multiple phenotypes are often designed for examining the relationship between common variants and a few phenotypes. They are not suited for both high dimensional phenotypes and high…
Mapping gene expression as a quantitative trait using whole genome-sequencing and transcriptome analysis allows to discover the functional consequences of genetic variation. We developed a novel method and ultra-fast software Findr for…
The electroencephalographic (EEG) signals provide highly informative data on brain activities and functions. However, their heterogeneity and high dimensionality may represent an obstacle for their interpretation. The introduction of a…
Insomnia affects a vast population of the world and can have a wide range of causes. Existing treatments for insomnia have been linked with many side effects like headaches, dizziness, etc. As such, there is a clear need for improved…
Brain function and connectivity is a pressing mystery in medicine related to many diseases. Neural connectomes have been studied as graphs with graph theory methods including topological methods. Work has started on hypergraph models and…
Genomic approaches have revolutionized medical research, providing valuable insights into human physiology and disease. Despite major benefits from large collections of genomes, the lack of diversity in genomic data represents a significant…
Subtyping neuropsychiatric disorders like schizophrenia is essential for improving the diagnosis and treatment of complex diseases. Subtyping schizophrenia is challenging because it is polygenic and genetically heterogeneous, rendering the…
A significant association between a polymorphism in the D repeat of the gene encoding asporin and osteoarthritis, the most frequent of articular diseases, has been recently reported. The goal of the present study was to investigate the…