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Collection of genotype data in case-control genetic association studies may often be incomplete for reasons related to genes themselves. This non-ignorable missingness structure, if not appropriately accounted for, can result in…

统计方法学 · 统计学 2024-07-12 Le Wang , Zhengbang Li , Ben Fitzpatrick , Clarice Weinberg , Jinbo Chen

Genomic data arising from a genome-wide association study (GWAS) are often not only of large-scale, but also incomplete. A specific form of their incompleteness is missing values with non-ignorable missingness mechanism. The intrinsic…

统计方法学 · 统计学 2021-11-11 Siru Wang , Guoqi Qian

Genome Wide Association Studies (GWAS) are used to identify statistically significant genetic variants in case-control studies. GWAS typically use a p-value threshold of 5 x 10-8 to identify highly ranked single nucleotide polymorphisms…

计算工程、金融与科学 · 计算机科学 2018-01-10 Paul Fergus , Casimiro Curbelo Montanez , Basma Abdulaimma , Paulo Lisboa , Carl Chalmers

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

Recent publications have described and applied a novel metric that quantifies the genetic distance of an individual with respect to two population samples, and have suggested that the metric makes it possible to infer the presence of an…

基因组学 · 定量生物学 2015-09-24 Rosemary Braun , William Rowe , Carl Schaefer , Jinghui Zhang , Kenneth Buetow

The family-wise error rate (FWER) has been widely used in genome-wide association studies. With the increasing availability of functional genomics data, it is possible to increase the detection power by leveraging these genomic functional…

统计方法学 · 统计学 2020-12-25 Huijuan Zhou , Xianyang Zhang , Jun Chen

Meta-analysis of multiple genome-wide association studies (GWAS) is effective for detecting single or multi marker associations with complex traits. We develop a flexible procedure ("STAMP") based on mixture models to perform region based…

统计方法学 · 统计学 2018-01-01 Andriy Derkach , Ruth M. Pfeiffer

It is generally acknowledged that most complex diseases are affected in part by interactions between genes and genes and/or between genes and environmental factors. Taking into account environmental exposures and their interactions with…

应用统计 · 统计学 2014-06-19 Flora Alarcon , Vittorio Perduca , Gregory Nuel

One of the most important challenges in the analysis of high-throughput genetic data is the development of efficient computational methods to identify statistically significant Single Nucleotide Polymorphisms (SNPs). Genome-wide association…

Motivation: Genome-wide association studies (GWASs), which assay more than a million single nucleotide polymorphisms (SNPs) in thousands of individuals, have been widely used to identify genetic risk variants for complex diseases. However,…

计算工程、金融与科学 · 计算机科学 2015-01-27 Ben Teng , Can Yang , Jiming Liu , Zhipeng Cai , Xiang Wan

Presented here is a simple method for cross-validated genome-wide association studies (cvGWAS). Focusing on phenotype prediction, the method is able to reveal a significant amount of missing heritability by properly selecting a small number…

定量方法 · 定量生物学 2013-08-08 Xia Shen

Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with complex traits, and some variants are shown to be associated with multiple complex traits. Genetic covariance between two traits is defined…

统计方法学 · 统计学 2023-10-06 Jianqiao Wang , Sai Li , Hongzhe Li

Investigating the genetic architecture of complex diseases is challenging due to the multifactorial and interactive landscape of genomic and environmental influences. Although genome-wide association studies (GWAS) have identified thousands…

基因组学 · 定量生物学 2025-02-12 Burak Yelmen , Maris Alver , Merve Nur Güler , Estonian Biobank Research Team , Flora Jay , Lili Milani

Ancestry-specific proteome-wide association studies (PWAS) based on genetically predicted protein expression can reveal complex disease etiology specific to certain ancestral groups. These studies require ancestry-specific models for…

应用统计 · 统计学 2024-04-26 Aaron J. Molstad , Yanwei Cai , Alexander P. Reiner , Charles Kooperberg , Wei Sun , Li Hsu

We study variance estimation and associated confidence intervals for parameters characterizing genetic effects from genome-wide association studies (GWAS) misspecified mixed model analysis. Previous studies have shown that, in spite of the…

统计方法学 · 统计学 2021-01-19 Cecilia Dao , Jiming Jiang , Debashis Paul , Hongyu Zhao

In this paper, we propose a graph-based kinship reasoning (GKR) network for kinship verification, which aims to effectively perform relational reasoning on the extracted features of an image pair. Unlike most existing methods which mainly…

计算机视觉与模式识别 · 计算机科学 2020-04-23 Wanhua Li , Yingqiang Zhang , Kangchen Lv , Jiwen Lu , Jianjiang Feng , Jie Zhou

Genome-wide association studies (GWAS) identify correlations between the genetic variants and an observable characteristic such as a disease. Previous works presented privacy-preserving distributed algorithms for a federation of genome data…

分布式、并行与集群计算 · 计算机科学 2022-09-21 Túlio Pascoal , Jérémie Decouchant , Marcus Völp

Genome-wide association studies (GWAS) have been widely used to examine the association between single nucleotide polymorphisms (SNPs) and complex traits, where both the sample size n and the number of SNPs p can be very large. Recently,…

统计方法学 · 统计学 2019-03-05 Bingxin Zhao , Hongtu Zhu

Genome-wide association studies(GWAS) have proven to be highly useful in revealing the genetic basis of complex diseases. At present, most GWAS are studies of a particular single disease diagnosis against controls. However, in practice, an…

基因组学 · 定量生物学 2021-01-01 Liangying Yin , Carlos Kwan-long Chau , Yu-Ping Lin , Pak-Chung Sham , Hon-Cheong So

An important task of human genetics studies is to accurately predict disease risks in individuals based on genetic markers, which allows for identifying individuals at high disease risks, and facilitating their disease treatment and…

基因组学 · 定量生物学 2013-08-20 Cong Li , Can Yang , Joel Gelernter , Hongyu Zhao