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Scientific studies in the last two decades have established the central role of the microbiome in disease and health. Differential abundance analysis seeks to identify microbial taxa associated with sample groups defined by a factor such as…

Methodology · Statistics 2023-12-29 Archie Sachdeva , Somnath Datta , Subharup Guha

For the vast majority of genome wide association studies (GWAS) published so far, statistical analysis was performed by testing markers individually. In this article we present some elementary statistical considerations which clearly show…

Applications · Statistics 2010-10-04 Florian Frommlet , Felix Ruhaltinger , Piotr Twarog , Malgorzata Bogdan

Motivation: Recent advances in technology for brain imaging and high-throughput genotyping have motivated studies examining the influence of genetic variation on brain structure. Wang et al. (Bioinformatics, 2012) have developed an approach…

Methodology · Statistics 2016-10-18 Keelin Greenlaw , Elena Szefer , Jinko Graham , Mary Lesperance , Farouk S. Nathoo

In settings requiring synthetic data generation based on a clinical cohort, e.g., due to data protection regulations, heterogeneity across individuals might be a nuisance that we need to control or faithfully preserve. The sources of such…

Machine Learning · Computer Science 2023-12-14 Kiana Farhadyar , Federico Bonofiglio , Maren Hackenberg , Daniela Zoeller , Harald Binder

The Gaussian graphical model is a widely used tool for learning gene regulatory networks with high-dimensional gene expression data. Most existing methods for Gaussian graphical models assume that the data are homogeneous, i.e., all samples…

Methodology · Statistics 2018-05-08 Bochao Jia , Faming Liang

This paper focuses on the Bayesian Network Propensity Score (BNPS), a novel approach for estimating treatment effects in observational studies characterized by unknown (and likely unbalanced) designs and complex dependency structures among…

The doubly robust estimator, which models both the propensity score and outcomes, is a popular approach to estimate the average treatment effect in the potential outcome setting. The primary appeal of this estimator is its theoretical…

Methodology · Statistics 2024-09-11 Kaoru Babasaki , Shonosuke Sugasawa , Kosaku Takanashi , Kenichiro McAlinn

We propose a novel measure of degree heterogeneity, for unweighted and undirected complex networks, which requires only the degree distribution of the network for its computation. We show that the proposed measure can be applied to all…

Physics and Society · Physics 2017-10-03 Rinku Jacob , K. P. Harikrishnan , R. Misra , G. Ambika

Spatial transcriptomics (ST) is a novel technology that enables the observation of gene expression at the resolution of individual spots within pathological tissues. ST quantifies the expression of tens of thousands of genes in a tissue…

Machine Learning · Computer Science 2025-11-25 Kaito Shiku , Kazuya Nishimura , Shinnosuke Matsuo , Yasuhiro Kojima , Ryoma Bise

Many common diseases are highly polygenic, modulated by a large number genetic factors with small effects on susceptibility to disease. These small effects are difficult to map reliably in genetic association studies. To address this…

Quantitative Methods · Quantitative Biology 2012-08-23 Peter Carbonetto , Matthew Stephens

Genotype networks are a method used in systems biology to study the "innovability" of a set of genotypes having the same phenotype. In the past they have been applied to determine the genetic heterogeneity, and stability to mutations, of…

Populations and Evolution · Quantitative Biology 2015-06-17 Giovanni Marco Dall'Olio , Jaume Bertranpetit , Andreas Wagner , Hafid Laayouni

Genetic association studies have been a popular approach for assessing the association between common Single Nucleotide Polymorphisms (SNPs) and complex diseases. However, other genomic data involved in the mechanism from SNPs to disease,…

Applications · Statistics 2014-04-28 Yen-Tsung Huang , Tyler J. VanderWeele , Xihong Lin

Phylogenetic Diversity (PD) is a prominent quantitative measure of the biodiversity of a collection of present-day species (taxa). This measure is based on the evolutionary distance among the species in the collection. Loosely speaking, if…

Populations and Evolution · Quantitative Biology 2021-07-20 Magnus Bordewich , Charles Semple , Kristina Wicke

The simultaneous estimation of many parameters based on data collected from corresponding studies is a key research problem that has received renewed attention in the high-dimensional setting. Many practical situations involve heterogeneous…

Methodology · Statistics 2026-03-26 Trambak Banerjee , Luella J. Fu , Gareth M. James , Gourab Mukherjee , Wenguang Sun

Although many phenotypic traits are determined by a large number of genetic variants, the behavior of allele frequencies in a polygenic trait is not completely understood. The problem is especially challenging when the quantitative trait of…

Populations and Evolution · Quantitative Biology 2026-03-31 Archana Devi , Kavita Jain

We propose a probabilistic model for interpreting gene expression levels that are observed through single-cell RNA sequencing. In the model, each cell has a low-dimensional latent representation. Additional latent variables account for…

Machine Learning · Computer Science 2018-01-18 Romain Lopez , Jeffrey Regier , Michael Cole , Michael Jordan , Nir Yosef

We consider nonparametric measurement error density deconvolution subject to heteroscedastic measurement errors as well as symmetry about zero and shape constraints, in particular unimodality. The problem is motivated by applications where…

Methodology · Statistics 2020-02-19 Ya Su , Anirban Bhattacharya , Yan Zhang , Nilanjan Chatterjee , Raymond J. Carroll

Genetic Gaussian network of multiple phenotypes constructed through the genetic correlation matrix is informative for understanding their biological dependencies. However, its interpretation may be challenging because the estimated genetic…

Methodology · Statistics 2024-12-31 Yihe Yang , Noah Lorincz-Comi , Xiaofeng Zhu

Products manufactured from the same batch or utilized in the same region often exhibit correlated lifetime observations due to the latent heterogeneity caused by the influence of shared but unobserved covariates. The unavailable…

Methodology · Statistics 2021-07-15 Xuxue Sun , Mingyang Li

Motivation: Modelling methods that find structure in data are necessary with the current large volumes of genomic data, and there have been various efforts to find subsets of genes exhibiting consistent patterns over subsets of treatments.…

Machine Learning · Computer Science 2016-09-15 Kerstin Bunte , Eemeli Leppäaho , Inka Saarinen , Samuel Kaski