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Detecting genomic footprints of selection is an important step in the understanding of evolution. Accounting for linkage disequilibrium in genome scans allows increasing the detection power, but haplotype-based methods require individual…

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

Some methods aim to correct or test for relationships or to reconstruct the pedigree, or family tree. We show that these methods cannot resolve ties for correct relationships due to identifiability of the pedigree likelihood which is the…

Quantitative Methods · Quantitative Biology 2016-02-29 B. Kirkpatrick

The availability of genomic data is essential to progress in biomedical research, personalized medicine, etc. However, its extreme sensitivity makes it problematic, if not outright impossible, to publish or share it. As a result, several…

Genomics · Quantitative Biology 2022-01-19 Bristena Oprisanu , Georgi Ganev , Emiliano De Cristofaro

Traditional statistical methods for confidentiality protection of statistical databases do not scale well to deal with GWAS (genome-wide association studies) databases especially in terms of guarantees regarding protection from linkage to…

Methodology · Statistics 2012-05-04 Caroline Uhler , Aleksandra B. Slavkovic , Stephen E. Fienberg

Variability is ubiquitous in nature and a fundamental feature of complex systems. Few studies, however, have investigated variance itself as a trait under genetic control. By focusing primarily on trait means and ignoring the effect of…

Significant volumes of knowledge have been accumulated in recent years linking subtle genetic variations to a wide variety of medical disorders from Cystic Fibrosis to mental retardation. Nevertheless, there are still great challenges in…

Genomics · Quantitative Biology 2016-11-17 Yaniv Erlich , Assaf Gordon , Michael Brand , Gregory J. Hannon , Partha P. Mitra

We present a mathematical model, and the corresponding mathematical analysis, that justifies and quantifies the use of principal component analysis of biallelic genetic marker data for a set of individuals to detect the number of…

Populations and Evolution · Quantitative Biology 2017-10-19 Katarzyna Bryc , Wlodek Bryc , Jack W. Silverstein

We propose a statistical method to test whether two phylogenetic trees with given alignments are significantly incongruent. Our method compares the two distributions of phylogenetic trees given by the input alignments, instead of comparing…

Populations and Evolution · Quantitative Biology 2010-04-14 Elissaveta Arnaoudova , David Haws , Peter Huggins , Jerzy W. Jaromczyk , Neil Moore , Chris Schardl , Ruriko Yoshida

A rigorous methodology is proposed to study cell division data consisting in several observed genealogical trees of possibly different shapes. The procedure takes into account missing observations, data from different trees, as well as the…

Applications · Statistics 2013-04-15 Benoîte de Saporta , Anne Gégout Petit , Laurence Marsalle

Mounting evidence suggests that natural populations can harbor extensive fitness diversity with numerous genomic loci under selection. It is also known that genealogical trees for populations under selection are quantifiably different from…

Populations and Evolution · Quantitative Biology 2013-01-04 Adel Dayarian , Boris I Shraiman

Understanding and dealing with inference biases in gravitational-wave (GW) parameter estimation when a plethora of signals are present in the data is one of the key challenges for the analysis of data from future GW detectors. Working…

General Relativity and Quantum Cosmology · Physics 2021-08-25 Andrea Antonelli , Ollie Burke , Jonathan R. Gair

Linear mixed models (LMMs) are widely used for heritability estimation in genome-wide association studies (GWAS). In standard approaches to heritability estimation with LMMs, a genetic relationship matrix (GRM) must be specified. In GWAS,…

Applications · Statistics 2019-01-11 Ruijun Ma , Lee H. Dicker

We introduce a statistical method that can reconstruct nonlinear genetic models (i.e., including epistasis, or gene-gene interactions) from phenotype-genotype (GWAS) data. The computational and data resource requirements are similar to…

Genomics · Quantitative Biology 2015-09-29 Chiu Man Ho , Stephen D. H. Hsu

Integrating heterogeneous datasets across different measurement platforms is a fundamental challenge in many scientific applications. A common example arises in deconvolution problems, such as cell type deconvolution, where one aims to…

Methodology · Statistics 2025-09-30 Dongyue Xie , Lin Gui , Jingshu Wang

Genome-wide association studies (GWAS) have emerged as a rich source of genetic clues into disease biology, and they have revealed strong genetic correlations among many diseases and traits. Some of these genetic correlations may reflect…

Methodology · Statistics 2018-11-28 Luke J. O'Connor , Alkes L. Price

In microarray experiments, it is often of interest to identify genes which have a pre-specified gene expression profile with respect to time. Methods available in the literature are, however, typically not stringent enough in identifying…

Applications · Statistics 2009-01-18 J. Tuke , G. F. V. Glonek , P. J. Solomon

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

We propose an experimental method for measuring bias in face recognition systems. Existing methods to measure bias depend on benchmark datasets that are collected in the wild and annotated for protected (e.g., race, gender) and…

Computer Vision and Pattern Recognition · Computer Science 2023-08-11 Hao Liang , Pietro Perona , Guha Balakrishnan

Over the past few decades, statistical methods for causal inference have made impressive strides, enabling progress across a range of scientific fields. However, much of this methodological development has been confined to individual…

Methodology · Statistics 2025-09-30 Wenqi Shi , José R. Zubizarreta
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