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Global expression analyses using microarray technologies are becoming more common in genomic research, therefore, new statistical challenges associated with combining information from multiple studies must be addressed. In this paper we…

应用统计 · 统计学 2013-01-29 Jia Li , George C. Tseng

The problems of large-scale multiple testing are often encountered in modern scientific researches. Conventional multiple testing procedures usually suffer considerable loss of testing efficiency due to the lack of consideration of…

统计方法学 · 统计学 2022-12-21 Pengfei Wang , Zhaofeng Tian

While progress has been made in identifying common genetic variants associated with human diseases, for most of common complex diseases, the identified genetic variants only account for a small proportion of heritability. Challenges remain…

应用统计 · 统计学 2025-08-18 Olga A. Vsevolozhskaya , Dmitri V. Zaykin , Mark C. Greenwood , Changshuai Wei , Qing Lu

Genome-Wide Association Studies (GWAS) offer an exciting and promising new research avenue for finding genes for complex diseases. Traditional case-control and cohort studies offer many advantages for such designs. Family-based association…

统计方法学 · 统计学 2010-10-25 Nan M. Laird , Christoph Lange

Genetic association studies have been a popular approach for assessing the association between common Single Nucleotide Polymorphisms (SNPs) and complex diseases. However, other genomic data involved in the mechanism from SNPs to disease,…

应用统计 · 统计学 2014-04-28 Yen-Tsung Huang , Tyler J. VanderWeele , Xihong Lin

Multimodal data are now prevailing in scientific research. A central question in multimodal integrative analysis is to understand how two data modalities associate and interact with each other given another modality or demographic…

统计方法学 · 统计学 2021-04-27 Lexin Li , Jing Zeng , Xin Zhang

Complex, non-additive genetic interactions are common and can be critical in determining phenotypes. Genome-wide association studies (GWAS) and similar statistical studies of linkage data, however, assume additive models of gene…

基因组学 · 定量生物学 2010-03-05 Nikita A. Sakhanenko , David J. Galas

Mendelian Randomization (MR) is a popular method in epidemiology and genetics that uses genetic variation as instrumental variables for causal inference. Existing MR methods usually assume most genetic variants are valid instrumental…

应用统计 · 统计学 2022-06-15 Daniel Iong , Qingyuan Zhao , Yang Chen

Marginal structural models (MSM) with inverse probability weighting (IPW) are used to estimate causal effects of time-varying treatments, but can result in erratic finite-sample performance when there is low overlap in covariate…

统计方法学 · 统计学 2019-07-16 Shirley Liao , Lucas Henneman , Corwin Zigler

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,…

信息检索 · 计算机科学 2025-06-13 Xiaofan Zhou , Liangjie Huang , Pinyang Cheng , Wenpen Yin , Rui Zhang , Wenrui Hao , Lu Cheng

Evaluating heterogeneity of treatment effects (HTE) across subgroups is common in both randomized trials and observational studies. Although several statistical challenges of HTE analyses including low statistical power and multiple…

统计方法学 · 统计学 2024-07-10 Noorie Hyun , Abisola E. Idu , Andrea J. Cook , Jennifer F. Bobb

Reconciling gene trees with a species tree is a fundamental problem to understand the evolution of gene families. Many existing approaches reconcile each gene tree independently. However, it is well-known that the evolution of gene families…

种群与进化 · 定量生物学 2018-06-12 Riccardo Dondi , Manuel Lafond , Celine Scornavacca

Recently, Ainsworth et al. showed that using weight matching (WM) to minimize the $L^2$ distance in a permutation search of model parameters effectively identifies permutations that satisfy linear mode connectivity (LMC), where the loss…

机器学习 · 计算机科学 2025-04-09 Akira Ito , Masanori Yamada , Atsutoshi Kumagai

Major Depressive Disorder (MDD) is a clinically heterogeneous syndrome with diverse etiological pathways. Traditional Epigenome-Wide Association Studies (EWAS) have successfully identified risk loci based on differential methylation…

计算工程、金融与科学 · 计算机科学 2026-01-27 Mingyan Liu , Min Huang

Statistics in ranked lists is important in analyzing molecular biology measurement data, such as ChIP-seq, which yields ranked lists of genomic sequences. State of the art methods study fixed motifs in ranked lists. More flexible models…

定量方法 · 定量生物学 2013-07-31 Limor Leibovich , Zohar Yakhini

Population genomic studies have shown that genetic draft and background selection can profoundly affect the genome-wide patterns of molecular variation. We performed forward simulations under realistic gene-structure and selection scenarios…

种群与进化 · 定量生物学 2013-05-08 Philipp W. Messer , Dmitri A. Petrov

Rare diseases are challenging to diagnose due to limited patient data and genetic diversity. Despite advances in variant prioritization, many cases remain undiagnosed. While large language models (LLMs) have performed well in medical exams,…

Rare disease trials face unique statistical challenges due to limited patient populations and heterogeneous clinical manifestations among patients. Multiple endpoints are often necessary to comprehensively capture treatment benefits. A…

统计方法学 · 统计学 2026-05-05 Tianyue Zhou , Susan Gruber , Hana Lee , Wonyul Lee , Lei Nie , Mark van der Laan

Identifying shared genetic risk factors for multiple measured traits has been of great interest in studying complex disorders. Marlow's (2003) method for detecting shared gene effects on complex traits has been highly influential in the…

统计方法学 · 统计学 2009-04-16 Summer S. Han , Elena L. Grigorenko , Joseph T. Chang

Alzheimer's disease gradually affects several components including the cerebral dimension with brain atrophies, the cognitive dimension with a decline in various functions and the functional dimension with impairment in the daily living…

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