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The projected increase of genotyping in the clinic and the rise of large genomic databases has led to the possibility of using patient medical data to perform genomewide association studies (GWAS) on a larger scale and at a lower cost than…

定量方法 · 定量生物学 2016-04-18 Sean Simmons , Cenk Sahinalp , Bonnie Berger

Traditional statistical methods for confidentiality protection of statistical databases do not scale well to deal with GWAS (genome-wide association studies) databases especially in terms of guarantees regarding protection from linkage to…

统计方法学 · 统计学 2012-05-04 Caroline Uhler , Aleksandra B. Slavkovic , Stephen E. Fienberg

Genome-wide association studies (GWAS) are an essential tool in biomedical research for identifying genetic factors linked to health and disease. However, publicly releasing GWAS summary statistics poses well-recognized privacy risks,…

定量方法 · 定量生物学 2025-12-05 Anupama Nandi , Seth Neel , Hyunghoon Cho

Genome-wide association studies (GWAS) have identified hundreds of loci at very stringent levels of statistical significance across many different human traits. However, it is now clear that very large samples (n~10^4-10^5) are needed to…

基因组学 · 定量生物学 2013-08-20 Inti Pedroso

The protection of privacy of individual-level information in genome-wide association study (GWAS) databases has been a major concern of researchers following the publication of "an attack" on GWAS data by Homer et al. (2008) Traditional…

应用统计 · 统计学 2014-02-10 Fei Yu , Stephen E. Fienberg , Aleksandra Slavković , Caroline Uhler

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 are pivotal in understanding the genetic underpinnings of complex traits and diseases. Collaborative, multi-site GWAS aim to enhance statistical power but face obstacles due to the sensitive nature of genomic…

密码学与安全 · 计算机科学 2025-12-12 Arjhun Swaminathan , Anika Hannemann , Ali Burak Ünal , Nico Pfeifer , Mete Akgün

As genomic research has grown increasingly popular in recent years, dataset sharing has remained limited due to privacy concerns. This limitation hinders the reproducibility and validation of research outcomes, both of which are essential…

密码学与安全 · 计算机科学 2025-04-02 Yuzhou Jiang , Tianxi Ji , Erman Ayday

Recent studies demonstrate that effective healthcare can benefit from using the human genomic information. For instance, analysis of tumor genomes has revealed 140 genes whose mutations contribute to cancer. As a result, many institutions…

密码学与安全 · 计算机科学 2017-03-09 Md Nazmus Sadat , Md Momin Al Aziz , Noman Mohammed , Feng Chen , Shuang Wang , Xiaoqian Jiang

Providing provenance in scientific workflows is essential for reproducibility and auditability purposes. Workflow systems model and record provenance describing the steps performed to obtain the final results of a computation. In this work,…

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

Reproducibility in genome-wide association studies (GWAS) is crucial for ensuring reliable genomic research outcomes. However, limited access to original genomic datasets (mainly due to privacy concerns) prevents researchers from…

基因组学 · 定量生物学 2024-11-19 Yuzhou Jiang , Erman Ayday

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

Conducting genome-wide association studies (GWAS) in copy number variation (CNV) level is a field where few people involves and little statistical progresses have been achieved, traditional methods suffer from many problems such as batch…

统计方法学 · 统计学 2020-11-17 Han Wang , Changhu Wang , Linjie Wu , Ruibin Xi

Motivation: The rapid growth in genome-wide association studies (GWAS) in plants and animals has brought about the need for a central resource that facilitates i) performing GWAS, ii) accessing data and results of other GWAS, and iii)…

Genome-wide association studies (GWASs) have been extensively adopted to depict the underlying genetic architecture of complex diseases. Motivated by GWASs' limitations in identifying small effect loci to understand complex traits'…

统计方法学 · 统计学 2023-10-09 Xinran Qi , Michael E. Belloy , Jiaqi Gu , Xiaoxia Liu , Hua Tang , Zihuai He

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

Despite significant progress in dissecting the genetic architecture of complex diseases by genome-wide association studies (GWAS), the signals identified by association analysis may not have specific pathological relevance to diseases so…

基因组学 · 定量生物学 2019-07-19 Rong Jiao , Xiangning Chen , Eric Boerwinkle , Momiao Xiong

Genome-Wide Association Studies (GWAS) help identify genetic variations in people with diseases such as Parkinson's disease (PD), which are less common in those without the disease. Thus, GWAS data can be used to identify genetic variations…

基因组学 · 定量生物学 2023-04-07 Ali Amelia , Lourdes Pena-Castillo , Hamid Usefi

With the recent advent of high-throughput genotyping techniques, genetic data for genome-wide association studies (GWAS) have become increasingly available, which entails the development of efficient and effective statistical approaches.…

应用统计 · 统计学 2015-02-04 Jiahan Li , Wei Zhong , Runze Li , Rongling Wu
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