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Understanding how genetic variants influence cellular-level processes is an important step towards understanding how they influence important organismal-level traits, or "phenotypes", including human disease susceptibility. To this end…

统计方法学 · 统计学 2013-07-30 Heejung Shim , Matthew Stephens

Interactions among multiple genes across the genome may contribute to the risks of many complex human diseases. Whole-genome single nucleotide polymorphisms (SNPs) data collected for many thousands of SNP markers from thousands of…

应用统计 · 统计学 2011-11-28 Yu Zhang , Jing Zhang , Jun S. Liu

Accurate identification of late-life depression (LLD) using structural brain MRI is essential for monitoring disease progression and facilitating timely intervention. However, existing learning-based approaches for LLD detection are often…

计算机视觉与模式识别 · 计算机科学 2025-07-31 Yuzhen Gao , Qianqian Wang , Yongheng Sun , Cui Wang , Yongquan Liang , Mingxia Liu

Machine learning and Large language models (LLMs) for vulnerability detection has received significant attention in recent years. Unfortunately, state-of-the-art techniques show that LLMs are unsuccessful in even distinguishing the…

密码学与安全 · 计算机科学 2025-08-05 Mohammed Sayagh , Mohammad Ghafari

Accurate prediction of clinical scores is critical for early detection and prognosis of Alzheimers disease (AD). While existing approaches primarily focus on forecasting the ADAS-Cog global score, they often overlook the predictive value of…

Chronic liver disease represents a significant health challenge worldwide and accurate prognostic evaluations are essential for personalized treatment plans. Recent evidence suggests that integrating multimodal data, such as computed…

计算机视觉与模式识别 · 计算机科学 2025-02-04 Linglong Wu , Xuhao Shan , Ruiquan Ge , Ruoyu Liang , Chi Zhang , Yonghong Li , Ahmed Elazab , Huoling Luo , Yunbi Liu , Changmiao Wang

Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study. Classical genetic association studies regress a single…

应用统计 · 统计学 2017-03-22 Hélène Ruffieux , Anthony C. Davison , Jörg Hager , Irina Irincheeva

We propose a resampling-based fast variable selection technique for detecting relevant single nucleotide polymorphisms (SNP) in a multi-marker mixed effect model. Due to computational complexity, current practice primarily involves testing…

应用统计 · 统计学 2025-04-30 Subhabrata Majumdar , Saonli Basu , Matt McGue , Snigdhansu Chatterjee

It is widely held that a substantial genetic component underlies Bipolar Disorder (BD) and other neuropsychiatric disease traits. Recent efforts have been aimed at understanding the genetic basis of disease susceptibility, with genome-wide…

In genetic association studies, detecting phenotype-genotype association is a primary goal. We assume that the relationship between the data -phenotype, genetic markers and environmental covariates - can be modelled by a generalized linear…

统计方法学 · 统计学 2020-04-13 K. K. Halle , Ø. Bakke , S. Djurovic , A. Bye , E. Ryeng , U. Wisløff , O. A. Andreassen , M. Langaas

Imaging genetic studies aim to find associations between genetic variants and imaging quantitative traits. Traditional genome-wide association studies (GWAS) are based on univariate statistical tests, but when multiple traits are analyzed…

基因组学 · 定量生物学 2022-04-04 Muhammad Ammar Malik , Alexander S. Lundervold , Tom Michoel

Wolff-Parkinson-White (WPW) syndrome, a congenital cardiac conduction abnormality with low prevalence, carries a significant risk of sudden cardiac death. Early identification remains challenging due to screening costs and professional…

信号处理 · 电气工程与系统科学 2026-02-06 Shun Huang , Deyun Zhang , Sumei Fan , Gongzheng Tang , Shijia Geng , Yujie Xiao , Xingliang Wu , Mingke Yan , Haoyu Wang , Rui Zhang , Zhaoji Fu , Shenda Hong

For the vast majority of genome wide association studies (GWAS) published so far, statistical analysis was performed by testing markers individually. In this article we present some elementary statistical considerations which clearly show…

应用统计 · 统计学 2010-10-04 Florian Frommlet , Felix Ruhaltinger , Piotr Twarog , Malgorzata Bogdan

Adaptive experimental designs have gained popularity in clinical trials and online experiments. Unlike traditional, fixed experimental designs, adaptive designs can dynamically adjust treatment randomization probabilities and other design…

统计方法学 · 统计学 2025-08-19 Wenxin Zhang , Mark van der Laan

Recent research in neuroimaging has focused on assessing associations between genetic variants that are measured on a genomewide scale and brain imaging phenotypes. A large number of works in the area apply massively univariate analyses on…

Modern longitudinal studies collect multiple outcomes as the primary endpoints to understand the complex dynamics of the diseases. Oftentimes, especially in clinical trials, the joint variations among the multidimensional responses play a…

统计方法学 · 统计学 2024-01-17 Salil Koner , Sheng Luo

Research on the localization of the genetic basis associated with diseases or traits has been widely conducted in the last a few decades. Scan methods have been developed for region-based analysis in whole-genome association studies,…

统计方法学 · 统计学 2024-10-31 Wei Zhang , Fan Wang , Fang Yao

Cardiovascular diseases (CVDs) are notably prevalent among patients with obstructive sleep apnea (OSA), posing unique challenges in predicting CVD progression due to the intricate interactions of comorbidities. Traditional models typically…

应用统计 · 统计学 2024-07-02 Duy Nguyen , Ca Hoang , Phat K. Huynh , Tien Truong , Dang Nguyen , Abhay Sharma , Trung Q. Le

In genome wide association studies (GWAS), researchers are often dealing with non-normally distributed traits or a mixture of discrete-continuous traits. However, most of the current region-based methods rely on multivariate linear mixed…

统计方法学 · 统计学 2021-09-30 Julien St-Pierre , Karim Oualkacha

Gene trees record the combination of gene level events, such as duplication, transfer and loss, and species level events, such as speciation and extinction. Gene tree-species tree reconciliation methods model these processes by drawing gene…

种群与进化 · 定量生物学 2013-06-11 Gergely J. Szöllősi , Wojciech Rosikiewicz , Bastien Boussau , Eric Tannier , Vincent Daubin