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The standard paradigm for the analysis of genome-wide association studies involves carrying out association tests at both typed and imputed SNPs. These methods will not be optimal for detecting the signal of association at SNPs that are not…

This paper explores an approach to Bayesian sample size determination in clinical trials. The approach falls into the category of what is often called "proper Bayesian", in that it does not mix frequentist concepts with Bayesian ones. A…

Methodology · Statistics 2012-04-23 Robb J. Muirhead , Adina I. Soaita

Clustering is a crucial task in various domains of knowledge, including medicine, epidemiology, genomics, environmental science, economics, and visual sciences, among others. Methodologies for inferring the number of clusters have often…

Methodology · Statistics 2025-05-26 Clara Grazian

In an empirical Bayesian setting, we provide a new multiple testing method, useful when an additional covariate is available, that influences the probability of each null hypothesis being true. We measure the posterior significance of each…

Applications · Statistics 2008-07-30 Egil Ferkingstad , Arnoldo Frigessi , Håvard Rue , Gudmar Thorleifsson , Augustine Kong

Methods to effectively detect multi-locus genetic association are becoming increasingly relevant in the genetic dissection of complex trait in humans. Current approaches typically consider a limited number of hypotheses, most of which are…

Genomics · Quantitative Biology 2007-05-23 Zhong Li , Aris Floratos , David Wang , Andrea Califano

Group testing is a method of identifying infected patients by performing tests on a pool of specimens collected from patients. For the case in which the test returns a false result with finite probability, we propose Bayesian inference and…

Machine Learning · Statistics 2020-07-15 Ayaka Sakata

Gene-gene interactions are often regarded as playing significant roles in influencing variabilities of complex traits. Although much research has been devoted to this area, to date a comprehensive statistical model that addresses the…

Applications · Statistics 2018-04-18 Durba Bhattacharya , Sourabh Bhattacharya

Pooled and individual disease testing are common methods for determining the population prevalences of diseases. Recently, researchers have used Monte Carlo Markov Chain methods to estimate population prevalence from the combined streams of…

Methodology · Statistics 2023-08-23 Matthew Ritch , Charles Copley

Motivated by genetic association studies of pleiotropy, we propose here a Bayesian latent variable approach to jointly study multiple outcomes or phenotypes. The proposed method models both continuous and binary phenotypes, and it accounts…

Applications · Statistics 2012-11-08 Lizhen Xu , Radu V. Craiu , Lei Sun

Gene regulatory networks play a crucial role in controlling an organism's biological processes, which is why there is significant interest in developing computational methods that are able to extract their structure from high-throughput…

Machine Learning · Statistics 2018-09-19 Ioan Gabriel Bucur , Tom van Bussel , Tom Claassen , Tom Heskes

We consider the problem of detecting and estimating the strength of association between a trait of interest and alleles or haplotypes in a small genomic region (e.g. a gene or a gene complex), when no direct information on that region is…

Applications · Statistics 2008-04-11 Rodrigo Labouriau , Poul Sørensen , Helle R. Juul-Madsen

Interactions among multiple genes across the genome may contribute to the risks of many complex human diseases. Whole-genome single nucleotide polymorphisms (SNPs) data collected for many thousands of SNP markers from thousands of…

Applications · Statistics 2011-11-28 Yu Zhang , Jing Zhang , Jun S. Liu

The discovery of disease subtypes is an essential step for developing precision medicine, and disease subtyping via omics data has become a popular approach. While promising, subtypes obtained from conventional approaches may not be…

Applications · Statistics 2023-09-28 Lingsong Meng , Zhiguang Huo

Identification of taxa can significantly be assisted by statistical classification based on trait measurements in two major ways; either individually or by phylogenetic (clustering) methods. In this paper we present a general Bayesian…

Applications · Statistics 2021-09-17 Måns Karlsson , Ola Hössjer

Polygnicity refers to the phenomenon that multiple genetic variants have a non-zero effect on a complex trait. It is defined as the proportion of genetic variants that have a nonzero effect on the trait. Evaluation of polygenicity can…

Genomics · Quantitative Biology 2022-07-26 Arunabha Majumdar , Bogdan Pasaniuc

Tumor is heterogeneous - a tumor sample usually consists of a set of subclones with distinct transcriptional profiles and potentially different degrees of aggressiveness and responses to drugs. Understanding tumor heterogeneity is therefore…

Applications · Statistics 2017-02-28 Fangzheng Xie , Mingyuan Zhou , Yanxun Xu

The use of genetic variants as instrumental variables - an approach known as Mendelian randomization - is a popular epidemiological method for estimating the causal effect of an exposure (phenotype, biomarker, risk factor) on a disease or…

Methodology · Statistics 2020-12-21 Ioan Gabriel Bucur , Tom Claassen , Tom Heskes

We present a coherent Bayesian framework for selection of the most likely model from the five genetic models (genotypic, additive, dominant, co-dominant, and recessive) commonly used in genetic association studies. The approach uses a…

Methodology · Statistics 2015-04-22 Harold Bae , Thomas Perls , Martin Steinberg , Paola Sebastiani

Estimating the prevalence of a disease is necessary for evaluating and mitigating risks of its transmission within or between populations. Estimates that consider how prevalence changes with time provide more information about these risks…

Applications · Statistics 2021-11-12 Braden Scherting , Alison Peel , Raina Plowright , Andrew Hoegh

Gene-gene and gene-environment interactions are widely believed to play significant roles in explaining the variability of complex traits. While substantial research exists in this area, a comprehensive statistical framework that addresses…

Methodology · Statistics 2026-02-18 Durba Bhattacharya , Sourabh Bhattacharya