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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

Propensity score weighting is an important tool for comparative effectiveness research.Besides the inverse probability of treatment weights (IPW), recent development has introduced a general class of balancing weights, corresponding to…

Methodology · Statistics 2022-09-05 Tianhui Zhou , Guangyu Tong , Fan Li , Laine E. Thomas , Fan Li

Microarray technology is still an important way to assess gene expression in molecular biology, mainly because it measures expression profiles for thousands of genes simultaneously, what makes this technology a good option for some studies…

Computation · Statistics 2015-11-12 Gustavo H. Esteves , Roberto Hirata

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…

Methodology · Statistics 2025-12-30 Monitirtha Dey , Trambak Banerjee , Prajamitra Bhuyan , Arunabha Majumdar

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…

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.…

Applications · Statistics 2015-02-04 Jiahan Li , Wei Zhong , Runze Li , Rongling Wu

In genome-wide association studies (GWAS), penalization is an important approach for identifying genetic markers associated with trait while mixed model is successful in accounting for a complicated dependence structure among samples.…

Methodology · Statistics 2013-05-21 Jin Liu , Can Yang , Xingjie Shi , Cong Li , Jian Huang , Hongyu Zhao , Shuangge Ma

Integrating multiple observational studies for meta-analysis has sparked much interest. The presented R package WMAP (Weighted Meta-Analysis with Pseudo-Population) addresses a critical gap in the implementation of integrative weighting…

Methodology · Statistics 2025-07-01 Subharup Guha , Mengqi Xu , Kashish Priyam , Yi Li

`scores` is a Python package containing mathematical functions for the verification, evaluation and optimisation of forecasts, predictions or models. It supports labelled n-dimensional (multidimensional) data, which is used in many…

One way of investigating how genes affect human traits would be with a genome-wide association study (GWAS). Genetic markers, known as single-nucleotide polymorphism (SNP), are used in GWAS. This raises privacy and security concerns as…

Applications · Statistics 2019-08-02 Jun Jie Sim , Fook Mun Chan , Shibin Chen , Benjamin Hong Meng Tan , Khin Mi Mi Aung

As genomic scale datasets motivate research on species tree inference, simulators of the multispecies coalescent (MSC) process are essential for the testing and evaluation of new inference methods. However, the simulators themselves must be…

Populations and Evolution · Quantitative Biology 2019-08-06 Elizabeth S. Allman , Hector Baños , John A. Rhodes

Combining data from several case-control genome-wide association (GWA) studies can yield greater efficiency for detecting associations of disease with single nucleotide polymorphisms (SNPs) than separate analyses of the component studies.…

Methodology · Statistics 2010-10-26 Ruth M. Pfeiffer , Mitchell H. Gail , David Pee

Genome-Wide Association Studies (GWAS) face unique challenges in the era of big genomics data, particularly when dealing with ultra-high-dimensional datasets where the number of genetic features significantly exceeds the available samples.…

Genomics · Quantitative Biology 2023-12-27 Kexuan Li

Motivation: Genome-wide association studies (GWAS) have successfully identified thousands of genetic risk loci for complex traits and diseases. Most of these GWAS loci lie in regulatory regions of the genome and the gene through which each…

Quantitative Methods · Quantitative Biology 2022-10-31 Leonardo Martini , Adriano Fazzone , Michele Gentili , Luca Becchetti , Brian Hobbs

This R package evaluates main and pair-wise interaction effect of single nucleotide polymorphisms (SNPs) via the W-test, scalable to whole genome-wide data sets. The package provides fast and accurate p-value estimation of genetic markers,…

Computation · Statistics 2016-10-12 Rui Sun , Billy Chang , Benny Chung-Ying Zee , Maggie Haitian Wang

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…

Applications · Statistics 2024-04-26 Aaron J. Molstad , Yanwei Cai , Alexander P. Reiner , Charles Kooperberg , Wei Sun , Li Hsu

Selecting interpretable feature sets in underdetermined ($n \ll p$) and highly correlated regimes constitutes a fundamental challenge in data science, particularly when analyzing physical measurements. In such settings, multiple distinct…

Machine Learning · Computer Science 2026-02-10 Kateřina Henclová , Václav Šmídl

We develop the "generalized consistent weighted sampling" (GCWS) for hashing the "powered-GMM" (pGMM) kernel (with a tuning parameter $p$). It turns out that GCWS provides a numerically stable scheme for applying power transformation on the…

Machine Learning · Statistics 2022-01-10 Ping Li , Weijie Zhao

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'…

Methodology · Statistics 2023-10-09 Xinran Qi , Michael E. Belloy , Jiaqi Gu , Xiaoxia Liu , Hua Tang , Zihuai He

Over 85 oversampling algorithms, mostly extensions of the SMOTE algorithm, have been built over the past two decades, to solve the problem of imbalanced datasets. However, it has been evident from previous studies that different…

Machine Learning · Computer Science 2021-07-16 Saptarshi Bej , Kristian Schultz , Prashant Srivastava , Markus Wolfien , Olaf Wolkenhauer