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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

In order to associate complex traits with genetic polymorphisms, genome-wide association studies process huge datasets involving tens of thousands of individuals genotyped for millions of polymorphisms. When handling these datasets, which…

基因组学 · 定量生物学 2014-03-26 Elmar Peise , Diego Fabregat-Traver , Paolo Bientinesi

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 surge in availability of genomic data holds promise for enabling determination of genetic causes of observed individual traits, with applications to problems such as discovery of the genetic roots of phenotypes, be they molecular…

分布式、并行与集群计算 · 计算机科学 2018-04-23 Wayne Joubert , James Nance , Deborah Weighill , Daniel Jacobson

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

Currently, third-generation sequencing techniques, which allow to obtain much longer DNA reads compared to the next-generation sequencing technologies, are becoming more and more popular. There are many possibilities to combine data from…

基因组学 · 定量生物学 2019-05-23 Wiktor Kuśmirek , Wiktor Franus , Robert Nowak

The availability of multi-omics data has revolutionized the life sciences by creating avenues for integrated system-level approaches. Data integration links the information across datasets to better understand the underlying biological…

统计方法学 · 统计学 2022-09-01 Said el Bouhaddani , Hae-Won Uh , Geurt Jongbloed , Jeanine Houwing-Duistermaat

Understanding the genetic basis of complex traits is a longstanding challenge in the field of genomics. Genome-wide association studies (GWAS) have identified thousands of variant-trait associations, but most of these variants are located…

Replicability is central to scientific progress, and the partial conjunction (PC) hypothesis testing framework provides an objective tool to quantify it across disciplines. Existing PC methods assume independent studies. Yet many modern…

统计方法学 · 统计学 2025-12-30 Monitirtha Dey , Trambak Banerjee , Prajamitra Bhuyan , Arunabha Majumdar

Sparse regularized regression methods are now widely used in genome-wide association studies (GWAS) to address the multiple testing burden that limits discovery of potentially important predictors. Linear mixed models (LMMs) have become an…

统计方法学 · 统计学 2022-06-27 Julien St-Pierre , Karim Oualkacha , Sahir Rai Bhatnagar

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

Protein-ligand interactions (PLIs) are fundamental to biochemical research and their identification is crucial for estimating biophysical and biochemical properties for rational therapeutic design. Currently, experimental characterization…

机器学习 · 统计学 2021-12-01 Carter Knutson , Mridula Bontha , Jenna A. Bilbrey , Neeraj Kumar

Since most analysis software for genome-wide association studies (GWAS) currently exploit only unrelated individuals, there is a need for efficient applications that can handle general pedigree data or mixtures of both population and…

应用统计 · 统计学 2014-12-23 Hua Zhou , John Blangero , Thomas D. Dyer , Kei-hang K. Chan , Kenneth Lange , Eric M. Sobel

Although genome-wide association studies (GWAS) on complex traits have achieved great successes, the current leading GWAS approaches simply perform to test each genotype-phenotype association separately for each genetic variant. Curiously,…

应用统计 · 统计学 2022-08-26 The Tien Mai , Pierre Alquier

Drug discovery represents a time-consuming and financially intensive process, and virtual screening can accelerate it. Scoring functions, as one of the tools guiding virtual screening, have their precision closely tied to screening…

机器学习 · 计算机科学 2026-01-13 Haotian Gao , Xiangying Zhang , Jingyuan Li , Xinchong Chen , Haojie Wang , Yifei Qi , Renxiao Wang

An explosion of high-throughput DNA sequencing in the past decade has led to a surge of interest in population-scale inference with whole-genome data. Recent work in population genetics has centered on designing inference methods for…

机器学习 · 计算机科学 2018-11-07 Jeffrey Chan , Valerio Perrone , Jeffrey P. Spence , Paul A. Jenkins , Sara Mathieson , Yun S. Song

Genome-wide association studies (GWAS) suggests that a complex disease is typically affected by many genetic variants with small or moderate effects. Identification of these risk variants remains to be a very challenging problem.…

统计方法学 · 统计学 2014-01-21 Dongjun Chung , Can Yang , Cong Li , Joel Gelernter , Hongyu Zhao

A computationally simple genome-wide association study (GWAS) algorithm for estimating the main and epistatic effects of markers or single nucleotide polymorphisms (SNPs) is proposed. It is based on the intuitive assumption that changes of…

定量方法 · 定量生物学 2017-08-08 Lev V. Utkin , Irina L. Utkina

In this paper, we introduce LINKS, a dataset of 100 million one degree of freedom planar linkage mechanisms and 1.1 billion coupler curves, which is more than 1000 times larger than any existing database of planar mechanisms and is not…

机器学习 · 计算机科学 2022-09-01 Amin Heyrani Nobari , Akash Srivastava , Dan Gutfreund , Faez Ahmed

Understanding patterns of selectively neutral genetic variation is essential in order to model deviations from neutrality, caused for example by different forms of selection. Best understood is neutral genetic variation at a single locus,…

种群与进化 · 定量生物学 2012-06-13 E. Schaper , A. Eriksson , M. Rafajlovic , S. Sagitov , B. Mehlig
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