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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…

Applications · Statistics 2010-07-13 Ann B. Lee , Diana Luca , Kathryn Roeder

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…

Computer Vision and Pattern Recognition · Computer Science 2024-09-04 Nagur Shareef Shaik , Teja Krishna Cherukuri , Vince Calhoun , Dong Hye Ye

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…

Quantitative Methods · Quantitative Biology 2021-11-23 Yiming Li , Sanjiv J. Shah , Donna Arnett , Ryan Irvin , Yuan Luo

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…

Machine Learning · Computer Science 2019-07-30 Cheng Qian , Amin Emad , Nicholas D. Sidiropoulos

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…

Applications · Statistics 2025-07-11 Joshua W. Betts , John M. Still , Thomas A. Lasko

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…

Image and Video Processing · Electrical Eng. & Systems 2024-01-08 Maria Frasca , Davide La Torre , Gabriella Pravettoni , Ilaria Cutica

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…

Neurons and Cognition · Quantitative Biology 2024-10-07 Matthew M Nour , Yunzhe Liu , Mohamady El-Gaby , Robert A McCutcheon , Raymond J Dolan

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…

Machine Learning · Statistics 2015-12-04 Panpan Wang , Mohammad Rahman , Li Jin , Momiao Xiong

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…

Genomics · Quantitative Biology 2017-08-23 Lingfei Wang , Tom Michoel

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…

Neural and Evolutionary Computing · Computer Science 2023-10-26 Aurora Saibene , Francesca Gasparini

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…

Signal Processing · Electrical Eng. & Systems 2025-07-22 Kevin Monteiro , Sam Nallaperuma-Herzberg , Martina Mason , Steve Niederer

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…

Methodology · Statistics 2022-05-09 Michael G. Rawson

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…

Molecular Networks · Quantitative Biology 2023-03-13 Xinru Wei , Shuai Dong , Zhao Su , Lili Tang , Pengfei Zhao , Chunyu Pan , Fei Wang , Yanqing Tang , Weixiong Zhang , Xizhe Zhang

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…

Tissues and Organs · Quantitative Biology 2015-05-27 Elise Duval , Nicolas Bigot , Magalie Hervieu , Ikuyo Kou , Sylvain Leclercq , Philippe Galéra , Karim Boumediene , Catherine Baugé