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Breast cancer is one of the most common cancers in women worldwide, and early detection can significantly reduce the mortality rate of breast cancer. It is crucial to take multi-scale information of tissue structure into account in the…

计算机视觉与模式识别 · 计算机科学 2021-01-01 Mo Zhang , Quanzheng Li

Missing genotypes can affect the efficacy of machine learning approaches to identify the risk genetic variants of common diseases and traits. The problem occurs when genotypic data are collected from different experiments with different DNA…

In genome-wide association studies (GWAS), hundreds of thousands of genetic markers (SNPs) are tested for association with a trait or phenotype. Reported effects tend to be larger in magnitude than the true effects of these markers, the…

统计方法学 · 统计学 2010-10-25 Michael E. Goddard , Naomi R. Wray , Klara Verbyla , Peter M. Visscher

Genetic variation in human populations is influenced by geographic ancestry due to spatial locality in historical mating and migration patterns. Spatial population structure in genetic datasets has been traditionally analyzed using either…

种群与进化 · 定量生物学 2016-10-26 Anand Bhaskar , Adel Javanmard , Thomas A. Courtade , David Tse

In genome-wide association studies (GWAS), penalization is an important approach for identifying genetic markers associated with trait while mixed model is successful in accounting for a complicated dependence structure among samples.…

统计方法学 · 统计学 2013-05-21 Jin Liu , Can Yang , Xingjie Shi , Cong Li , Jian Huang , Hongyu Zhao , Shuangge Ma

Drug development is a very costly and lengthy process, while repositioned or repurposed drugs could be brought into clinical practice within a shorter time-frame and at a much reduced cost. The past decade has observed a massive growth in…

基因组学 · 定量生物学 2019-11-14 Alexandria Lau , Hon-Cheong So

Multivariate linear mixed models (mvLMMs) have been widely used in many areas of genetics, and have attracted considerable recent interest in genome-wide association studies (GWASs). However, fitting mvLMMs is computationally non-trivial,…

定量方法 · 定量生物学 2013-09-13 Xiang Zhou , Matthew Stephens

While we once thought of cancer as single monolithic diseases affecting a specific organ site, we now understand that there are many subtypes of cancer defined by unique patterns of gene mutations. These gene mutational data, which can be…

定量方法 · 定量生物学 2017-03-07 Jipeng Qiang , Wei Ding , John Quackenbush , Ping Chen

Motivation: Networks underlie the generation and interpretation of many biological datasets: gene networks shed light on the regulatory structure of the genome, and cell networks can capture structure of the tumor micro-environment.…

机器学习 · 统计学 2026-03-18 Bailey Andrew , Erica L. Harris , James A. Poulter , David R. Westhead , Luisa Cutillo

We show that the signal-processing paradigm known as compressed sensing (CS) is applicable to genome-wide association studies (GWAS) and genomic selection (GS). The aim of GWAS is to isolate trait-associated loci, whereas GS attempts to…

基因组学 · 定量生物学 2014-05-13 Shashaank Vattikuti , James J. Lee , Christopher C. Chang , Stephen D. H. Hsu , Carson C. Chow

Common complex diseases are likely influenced by the interplay of hundreds, or even thousands, of genetic variants. Converging evidence shows that genetic variants with low marginal effects (LME) play an important role in disease…

定量方法 · 定量生物学 2025-08-18 Changshuai Wei , Daniel J. Schaid , Qing Lu

Modeling and drawing inference on the joint associations between single nucleotide polymorphisms and a disease has sparked interest in genome-wide associations studies. In the motivating Boston Lung Cancer Survival Cohort (BLCSC) data, the…

统计方法学 · 统计学 2021-11-18 Lu Xia , Bin Nan , Yi Li

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

Transcriptome-wide association studies (TWAS) link genetic variation to complex traits by leveraging expression quantitative trait loci (eQTL) data. However, most implementations are typically limited to local (cis-acting) effects and fail…

分子网络 · 定量生物学 2025-12-09 Gutama Ibrahim Mohammad , Johan LM Björkegren , Tom Michoel

We introduce a statistical method that can reconstruct nonlinear genetic models (i.e., including epistasis, or gene-gene interactions) from phenotype-genotype (GWAS) data. The computational and data resource requirements are similar to…

基因组学 · 定量生物学 2015-09-29 Chiu Man Ho , Stephen D. H. Hsu

With advancements in next generation sequencing technology, a massive amount of sequencing data are generated, offering a great opportunity to comprehensively investigate the role of rare variants in the genetic etiology of complex…

统计方法学 · 统计学 2025-08-18 Changshuai Wei , Ming Li , Zihuai He , Olga Vsevolozhskaya , Daniel J. Schaid , Qing Lu

Network science is already making an impact on the study of complex systems and offers a promising variety of tools to understand their formation and evolution (1-4) in many disparate fields from large communication networks (5,6),…

生物大分子 · 定量生物学 2007-11-13 Jose C Nacher , Jean-Marc Schwartz

For complex diseases, the interactions between genetic and environmental risk factors can have important implications beyond the main effects. Many of the existing interaction analyses conduct marginal analysis and cannot accommodate the…

统计方法学 · 统计学 2016-05-31 Yangguang Zang , Yinjun Zhao , Qingzhao Zhang , Hao Chai , Sanguo Zhang , Shuangge Ma

We present a novel analytical framework to examine socio-spatial segregation across multiple spatial scales, explicitly leveraging information theory and percolation theory. This framework emphasizes the interplay between regional…

物理与社会 · 物理学 2025-05-22 Mateo Neira , Valentina Marin , Elsa Arcaute

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
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