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We consider the problem of testing a null hypothesis defined by equality and inequality constraints on a statistical parameter. Testing such hypotheses can be challenging because the number of relevant constraints may be on the same order…

Methodology · Statistics 2024-02-19 Nils Sturma , Mathias Drton , Dennis Leung

In almost any geostatistical analysis, one of the underlying, often implicit, modelling assump- tions is that the spatial locations, where measurements are taken, are recorded without error. In this study we develop geostatistical inference…

Applications · Statistics 2017-11-02 Claudio Fronterrè , Emanuele Giorgi , Peter J. Diggle

It is increasingly recognized that participation bias can pose problems for genetic studies. Recently, to overcome the challenge that genetic information of non-participants is unavailable, it is shown that by comparing the IBD (identity by…

Methodology · Statistics 2024-11-22 Shuang Song , Stefania Benonisdottir , Jun S. Liu , Augustine Kong

Mediation analysis is a powerful tool for studying causal pathways between exposure, mediator, and outcome variables of interest. While classical mediation analysis using observational data often requires strong and sometimes unrealistic…

Methodology · Statistics 2024-05-20 Rita Qiuran Lyu , Chong Wu , Xinwei Ma , Jingshen Wang

The Genographic Project is an international effort using genetic data to chart human migratory history. The project is non-profit and non-medical, and through its Legacy Fund supports locally led efforts to preserve indigenous and…

Measuring inter-dataset similarity is an important task in machine learning and data mining with various use cases and applications. Existing methods for measuring inter-dataset similarity are computationally expensive, limited, or…

Machine Learning · Computer Science 2025-05-06 Muhammad Rajabinasab , Anton D. Lautrup , Arthur Zimek

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

We present methods for inference about relationships between contributors to a DNA mixture and other individuals of known genotype: a basic example would be testing whether a contributor to a mixture is the father of a child of known…

Applications · Statistics 2017-01-30 Peter J. Green , Julia Mortera

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

We linked names and contact information to publicly available profiles in the Personal Genome Project. These profiles contain medical and genomic information, including details about medications, procedures and diseases, and demographic…

Computers and Society · Computer Science 2013-04-30 Latanya Sweeney , Akua Abu , Julia Winn

Traditionally, heritability has been estimated using family-based methods such as twin studies. Advancements in molecular genomics have facilitated the development of alternative methods that utilise large samples of unrelated or related…

In this paper, we address the question of comparison between populations of trees. We study an statistical test based on the distance between empirical mean trees, as an analog of the two sample z statistic for comparing two means. Despite…

Statistics Theory · Mathematics 2007-08-14 Ana Georgina Flesia , Ricardo Fraiman

Sex difference in allele frequency is an emerging topic that is critical to our understanding of ascertainment bias, as well as data quality particularly of the largely overlooked X chromosome. To detect sex difference in allele frequency…

Applications · Statistics 2022-12-26 Zhong Wang , Andrew D. Paterson , Lei Sun

Motivation: Genome-wide association studies (GWASs), which assay more than a million single nucleotide polymorphisms (SNPs) in thousands of individuals, have been widely used to identify genetic risk variants for complex diseases. However,…

Computational Engineering, Finance, and Science · Computer Science 2015-01-27 Ben Teng , Can Yang , Jiming Liu , Zhipeng Cai , Xiang Wan

Patterns of isolation-by-distance arise when population differentiation increases with increasing geographic distances. Patterns of isolation-by-distance are usually caused by local spatial dispersal, which explains why differences of…

Populations and Evolution · Quantitative Biology 2014-01-08 Nicolas Duforet-Frebourg , Michael G. B. Blum

The detection of molecular signatures of selection is one of the major concerns of modern population genetics. A widely used strategy in this context is to compare samples from several populations, and to look for genomic regions with…

Populations and Evolution · Quantitative Biology 2013-01-24 Marìa Inès Fariello , Simon Boitard , Hugo Naya , Magali SanCristobal , Bertrand Servin

Bootstrap is a common tool for quantifying uncertainty in data analysis. However, besides additional computational costs in the application of the bootstrap on massive data, a challenging problem in bootstrap based inference under…

Machine Learning · Statistics 2025-05-05 Holger Dette , Carina Graw

Replication helps ensure that a genotype-phenotype association observed in a genome-wide association (GWA) study represents a credible association and is not a chance finding or an artifact due to uncontrolled biases. We discuss…

Methodology · Statistics 2010-10-26 Peter Kraft , Eleftheria Zeggini , John P. A. Ioannidis

There are many instances in genetics in which we wish to determine whether two candidate populations are distinguishable on the basis of their genetic structure. Examples include populations which are geographically separated, case--control…

Quantitative Methods · Quantitative Biology 2015-05-20 M. Bridges , E. A. Heron , C. O'Dushlaine , R. Segurado , The International Schizophrenia Consortium , D. Morris , A. Corvin , M. Gill , C. Pinto

Despite significant progress in dissecting the genetic architecture of complex diseases by genome-wide association studies (GWAS), the signals identified by association analysis may not have specific pathological relevance to diseases so…

Genomics · Quantitative Biology 2019-07-19 Rong Jiao , Xiangning Chen , Eric Boerwinkle , Momiao Xiong
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