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Genetic association studies, in particular the genome-wide association study design, have provided a wealth of novel insights into the aetiology of a wide range of human diseases and traits. The next challenge consists of understanding the…

Hybrid type 2 studies are gaining popularity for their ability to assess both implementation and health outcomes as co-primary endpoints. Often conducted as cluster-randomized trials (CRTs), five design methods can validly power these…

Methodology · Statistics 2026-05-18 Melody Owen , Fan Li , Ruyi Liu , Donna Spiegelman

Genome-wide association studies have become increasingly common due to advances in technology and have permitted the identification of differences in single nucleotide polymorphism (SNP) alleles that are associated with diseases. However,…

Quantitative Methods · Quantitative Biology 2015-09-24 Rosemary Braun , Kenneth Buetow

Distance-based regression model, as a nonparametric multivariate method, has been widely used to detect the association between variations in a distance or dissimilarity matrix for outcomes and predictor variables of interest in genetic…

Statistics Theory · Mathematics 2022-03-14 Yuke Shi , Wei Zhang , Aiyi Liu , Qizhai Li

In this paper, association results from genome-wide association studies (GWAS) are combined with a deep learning framework to test the predictive capacity of statistically significant single nucleotide polymorphism (SNPs) associated with…

Computers and Society · Computer Science 2018-08-27 Casimiro Adays Curbelo Montañez , Paul Fergus , Almudena Curbelo Montañez , Carl Chalmers

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…

Methodology · Statistics 2024-07-12 Le Wang , Zhengbang Li , Ben Fitzpatrick , Clarice Weinberg , Jinbo Chen

We propose a dynamic allocation procedure that increases power and efficiency when measuring an average treatment effect in sequential randomized trials exploiting some subjects' previous assessed responses. Subjects arrive sequentially and…

Methodology · Statistics 2021-06-03 Adam Kapelner , Abba Krieger

Adaptation in response to selection on polygenic phenotypes may occur via subtle allele frequencies shifts at many loci. Current population genomic techniques are not well posed to identify such signals. In the past decade, detailed…

Populations and Evolution · Quantitative Biology 2014-08-19 Jeremy J. Berg , Graham Coop

Sequencing by synthesis is used in many next-generation DNA sequencing technologies. Some of the technologies, especially those exploring the principle of single-molecule sequencing, allow incomplete nucleotide incorporation in each cycle.…

Genomics · Quantitative Biology 2024-05-28 Yong Kong

Learning Ising or Potts models from data has become an important topic in statistical physics and computational biology, with applications to predictions of structural contacts in proteins and other areas of biological data analysis. The…

Biological Physics · Physics 2018-09-19 Chen-Yi Gao , Hai-Jun Zhou , Erik Aurell

Statistic modeling and data-driven learning are the two vital fields that attract many attentions. Statistic models intend to capture and interpret the relationships among variables, while data-based learning attempt to extract information…

Machine Learning · Computer Science 2021-12-22 Jingwei Li

Win statistics have become increasingly popular for analyzing hierarchical composite endpoints in clinical trials, because they summarize treatment benefit through pairwise comparisons that respect the clinical importance order among…

Methodology · Statistics 2026-04-21 Xi Fang , Guangyu Tong , Yuan Huang , F. Perry Wilson , Patrick J. Heagerty , Fan Li

The standard methods for detecting differential gene expression are mostly designed for analyzing a single gene expression experiment. When data from multiple related gene expression studies are available, separately analyzing each study is…

Methodology · Statistics 2013-11-07 Yingying Wei , Hongkai Ji

Longitudinal biomarkers are frequently collected in clinical studies due to their strong association with time-to-event outcomes. While considerable progress has been made in methods for jointly modeling longitudinal and survival data,…

Methodology · Statistics 2026-02-18 Yuan Bian , Shelley B. Bull

We consider applying Bayesian Variable Selection Regression, or BVSR, to genome-wide association studies and similar large-scale regression problems. Currently, typical genome-wide association studies measure hundreds of thousands, or…

Applications · Statistics 2011-10-28 Yongtao Guan , Matthew Stephens

Many joint-SNVs (single-nucleotide variants) analysis methods were proposed to tackle the "missing heritability" problem, which emphasizes that the joint genetic variants can explain more heritability of traits and diseases. However, there…

Methodology · Statistics 2017-08-01 Jin-Xiong Lv , Shikui Tu , Lei Xu

The integrative analysis of multiple datasets is an important strategy in data analysis. It is increasingly popular in genomics, which enjoys a wealth of publicly available datasets that can be compared, contrasted, and combined in order to…

Methodology · Statistics 2019-11-20 Sihai Dave Zhao

Statistical power is a measure of the replicability of a categorical hypothesis test. Formally, it is the probability of detecting an effect, if there is a true effect present in the population. Hence, optimizing statistical power as a…

Computation · Statistics 2023-02-21 Abhishek K. Umrawal , Sean P. Lane , Erin P. Hennes

Pooling genome-wide association studies of multiple related traits can substantially increase power for detecting genetic variants with pleiotropic effects. ASSET, which exhaustively searches all subsets of studies for association signals,…

Methodology · Statistics 2026-04-28 Samuel Anyaso-Samuel , Thong Luong , Fei Qin , Jiyeon Choi , Kai Yu , Paul S. Albert , Jianxin Shi

Many testing problems are readily amenable to randomised tests such as those employing data splitting. However despite their usefulness in principle, randomised tests have obvious drawbacks. Firstly, two analyses of the same dataset may…

Methodology · Statistics 2024-09-05 F. Richard Guo , Rajen D. Shah
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