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The past decade has seen a rapid growth in omics technologies. Genome-wide association studies (GWAS) have uncovered susceptibility variants for a variety of complex traits. However, the functional significance of most discovered variants…

Genomics · Quantitative Biology 2017-02-22 Hon-Cheong So

Simultaneous variable selection and statistical inference is challenging in high-dimensional data analysis. Most existing post-selection inference methods require explicitly specified regression models, which are often linear, as well as…

Methodology · Statistics 2026-03-19 Shangyuan Ye , Shauna Rakshe , Ye Liang

Since the emergence of genome-wide association studies (GWASs), estimation of the narrow sense heritability explained by common single-nucleotide polymorphisms (SNPs) via linear mixed model approaches became widely used. As in most GWASs,…

Methodology · Statistics 2015-07-31 Najla Saad Elhezzani

To properly validate wireless networking solutions we depend on experimentation. Simulation very often produces less accurate results due to the use of models that are simplifications of the real phenomena they try to model. Networking…

Networking and Internet Architecture · Computer Science 2019-04-01 Vitor Lamela , Helder Fontes , Tiago Oliveira , Jose Ruela , Manuel Ricardo , Rui Campos

Genetic association studies are becoming an important component of medical research. To cite one instance, pharmacogenomics which is gaining prominence as a useful tool for personalized medicine is heavily reliant on results from genetic…

Applications · Statistics 2018-03-13 Majnu John , Todd Lencz , Anil K Malhotra , Christoph U Correll , Jian-Ping Zhang

Genome-wide association studies (GWAS) are commonly employed to study the genetic basis of complex traits and diseases, and a key question is how much heritability could be explained by all variants in GWAS. One widely used approach that…

Genomics · Quantitative Biology 2023-06-27 Hon-Cheong So , Xiao Xue , Pak-Chung Sham

Genome-wide association studies (GWA studies or GWAS) investigate the relationships between genetic variants such as single-nucleotide polymorphisms (SNPs) and individual traits. Recently, incorporating biological priors together with…

Machine Learning · Statistics 2017-09-13 Tao Yang , Paul Thompson , Sihai Zhao , Jieping Ye

We consider the problem of identifying whether findings replicate from one study of high dimension to another, when the primary study guides the selection of hypotheses to be examined in the follow-up study as well as when there is no…

Methodology · Statistics 2014-01-28 Marina Bogomolov , Ruth Heller

Results of simulation studies evaluating the performance of statistical methods are often considered actionable and thus can have a major impact on the way empirical research is implemented. However, so far there is limited evidence about…

In cancer research, clustering techniques are widely used for exploratory analyses and dimensionality reduction, playing a critical role in the identification of novel cancer subtypes, often with direct implications for patient management.…

The field of psychological sciences has been grappling with the replicability crisis. Various issues have been identified as potential sources of this problem. We bring to light a potential source that has largely been overlooked and…

Methodology · Statistics 2025-04-28 Yoav Zeevi , Sofi Astashenko , Liad Mudrik , Yoav Benjamini

For clinical studies with continuous outcomes, when the data are potentially skewed, researchers may choose to report the whole or part of the five-number summary (the sample median, the first and third quartiles, and the minimum and…

Methodology · Statistics 2023-05-09 Jiandong Shi , Dehui Luo , Xiang Wan , Yue Liu , Jiming Liu , Zhaoxiang Bian , Tiejun Tong

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…

Methodology · Statistics 2010-10-25 Michael E. Goddard , Naomi R. Wray , Klara Verbyla , Peter M. Visscher

In genetics it is often of interest to discover single nucleotide polymorphisms (SNPs) that are directly related to a disease, rather than just being associated with it. Few methods exist, however, addressing this so-called `true sparsity…

Applications · Statistics 2011-07-28 Matthew Sperrin , Thomas Jaki

After the completion of human genome sequence was anounced, it is evident that interpretation of DNA sequences is an immediate task to work on. For understanding their signals, improvement of present sequence analysis tools and developing…

Computational Complexity · Computer Science 2007-05-23 Gene Kim , MyungHo Kim

Pedigree GWAS (Option 29) in the current version of the Mendel software is an optimized subroutine for performing large scale genome-wide QTL analysis. This analysis (a) works for random sample data, pedigree data, or a mix of both, (b) is…

Applications · Statistics 2014-08-01 Hua Zhou , Jin Zhou , Tao Hu , Eric M Sobel , Kenneth Lange

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,…

Applications · Statistics 2022-08-26 The Tien Mai , Pierre Alquier

Genome-Wide Association Studies (GWAS) explain only a small fraction of heritability for most complex human phenotypes. Genomic heritability estimates the variance explained by the SNPs on the whole genome using mixed models and accounts…

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

Ascertaining the feasibility of independent falsification or repetition of published results is vital to the scientific process, and replication or reproduction experiments are routinely performed in many disciplines. Unfortunately, such…

Databases · Computer Science 2020-09-11 Dimitri Braininger , Wolfgang Mauerer , Stefanie Scherzinger
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