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Recently more and more evidence suggests that rare variants with much lower minor allele frequencies play significant roles in disease etiology. Advances in next-generation sequencing technologies will lead to many more rare variants…

统计方法学 · 统计学 2014-03-05 Ruixue Fan , Shaw-Hwa Lo

Although genome-wide association studies (GWAS) have proven powerful for comprehending the genetic architecture of complex traits, they are challenged by a high dimension of single-nucleotide polymorphisms (SNPs) as predictors, the presence…

应用统计 · 统计学 2015-09-15 Jiahan Li , Zhong Wang , Runze Li , Rongling Wu

The vast majority of connections between complex disease and common genetic variants were identified through meta-analysis, a powerful approach that enables large samples sizes while protecting against common artifacts due to population…

Where causal SNPs (single nucleotide polymorphisms) tend to accumulate within biological pathways, the incorporation of prior pathways information into a statistical model is expected to increase the power to detect true associations in a…

统计方法学 · 统计学 2012-01-30 Matt Silver , Giovanni Montana

Because of the high cost of commercial genotyping chip technologies, many investigations have used a two-stage design for genome-wide association studies, using part of the sample for an initial discovery of ``promising'' SNPs at a less…

Genome-wide association studies (GWAS) have emerged as a rich source of genetic clues into disease biology, and they have revealed strong genetic correlations among many diseases and traits. Some of these genetic correlations may reflect…

统计方法学 · 统计学 2018-11-28 Luke J. O'Connor , Alkes L. Price

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

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

Genome-wide association studies (GWAS) have achieved great success in the genetic study of Alzheimer's disease (AD). Collaborative imaging genetics studies across different research institutions show the effectiveness of detecting genetic…

Motivation. Association studies have been widely used to search for associations between common genetic variants observations and a given phenotype. However, it is now generally accepted that genes and environment must be examined jointly…

The variance component tests used in genomewide association studies of thousands of individuals become computationally exhaustive when multiple traits are analysed in the context of omics studies. We introduce two high-throughput algorithms…

计算工程、金融与科学 · 计算机科学 2012-11-13 Diego Fabregat-Traver , Yurii S. Aulchenko , Paolo Bientinesi

To date, genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants among a variety of traits/diseases, shedding a light on the genetic architecture of complex diseases. Polygenicity of complex…

统计方法学 · 统计学 2017-10-27 Yi Yang , Mingwei Dai , Jian Huang , Xinyi Lin , Can Yang , Jin Liu , Min Chen

As an increasing number of genome-wide association studies reveal the limitations of attempting to explain phenotypic heritability by single genetic loci, there is growing interest for associating complex phenotypes with sets of genetic…

We propose a novel and easy-to-implement joint location-scale association testing procedure that can account for complex genetic architecture without explicitly modeling interaction effects, and is suitable for large-scale whole-genome…

统计方法学 · 统计学 2014-11-14 David Soave , Andrew Paterson , Lisa Strug , Lei Sun

Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown. Human complex diseases are likely influenced by…

统计方法学 · 统计学 2014-05-27 Zihuai He , Min Zhang , Xiaowei Zhan , Qing Lu

Survival analysis using whole-slide images (WSIs) is crucial in cancer research. Despite significant successes, pathology images typically only provide slide-level labels, which hinders the learning of discriminative representations from…

计算机视觉与模式识别 · 计算机科学 2025-09-23 Chengsheng Zhang , Linhao Qu , Xiaoyu Liu , Zhijian Song

Genome-wide Association Studies (GWASs) for complex diseases often collect data on multiple correlated endo-phenotypes. Multivariate analysis of these correlated phenotypes can improve the power to detect genetic variants. Multivariate…

统计方法学 · 统计学 2015-03-12 Debashree Ray , James S Pankow , Saonli Basu

Increasing evidence has shown that gene-gene interactions have important effects on biological processes of human diseases. Due to the high dimensionality of genetic measurements, existing interaction analysis methods usually suffer from a…

统计方法学 · 统计学 2021-01-11 Xing Qin , Shuangge Ma , Mengyun Wu

We provide a view on high-dimensional statistical inference for genome-wide association studies (GWAS). It is in part a review but covers also new developments for meta analysis with multiple studies and novel software in terms of an…

应用统计 · 统计学 2020-02-17 Claude Renaux , Laura Buzdugan , Markus Kalisch , Peter Bühlmann

Background: Advances in high throughput sequencing technologies provide a huge number of genomes to be analyzed. Thus, computational methods play a crucial role in analyzing and extracting knowledge from the data generated. Investigating…