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Population genetic studies have found evidence for dramatic population growth in recent human history. It is unclear how this recent population growth, combined with the effects of negative natural selection, has affected patterns of…

Populations and Evolution · Quantitative Biology 2014-02-11 Kirk E. Lohmueller

Recent genome-wide association studies (GWAS) have uncovered the genetic basis of complex traits, but show an under-representation of non-European descent individuals, underscoring a critical gap in genetic research. Here, we assess whether…

Machine Learning · Computer Science 2024-05-08 Thomas Le Menestrel , Erin Craig , Robert Tibshirani , Trevor Hastie , Manuel Rivas

Taking advantages of high-throughput genotyping technology of single nucleotide polymorphism (SNP), large genome-wide association studies (GWASs) have been considered as the promise to unravel the complex relationships between genotypes and…

Genomics · Quantitative Biology 2018-11-20 Xuan Guo

Dietary patterns synthesize multiple related diet components, which can be used by nutrition researchers to examine diet-disease relationships. Latent class models (LCMs) have been used to derive dietary patterns from dietary intake…

Methodology · Statistics 2025-04-11 Mengbing Li , Briana Stephenson , Zhenke Wu

Large-scale web-scraped text corpora used to train general-purpose AI models often contain harmful demographic-targeted social biases, creating a regulatory need for data auditing and developing scalable bias-detection methods. Although…

Computation and Language · Computer Science 2026-04-10 Ayan Majumdar , Feihao Chen , Jinghui Li , Xiaozhen Wang

Linear Mixed Model (LMM) is a common statistical approach to model the relation between exposure and outcome while capturing individual variability through random effects. However, this model assumes the homogeneity of the error term's…

Methodology · Statistics 2026-01-27 Vincent Jeanselme , Marco Palma , Jessica K Barrett

Selective inference aims at providing valid inference after a data-driven selection of models or hypotheses. It is essential to avoid overconfident results and replicability issues. While significant advances have been made in this area for…

Methodology · Statistics 2025-03-14 Matteo D'Alessandro , Magne Thoresen

Mendelian Randomization (MR) is a popular method in epidemiology and genetics that uses genetic variation as instrumental variables for causal inference. Existing MR methods usually assume most genetic variants are valid instrumental…

Applications · Statistics 2022-06-15 Daniel Iong , Qingyuan Zhao , Yang Chen

In recent years, there is a growing interest in combining techniques attributed to the areas of Statistics and Machine Learning in order to obtain the benefits of both approaches. In this article, the statistical technique lasso for…

Machine Learning · Statistics 2023-09-08 David Delgado , Ernesto Curbelo , Danae Carreras

Large Language Models (LLMs) have seen widespread deployment in various real-world applications. Understanding these biases is crucial to comprehend the potential downstream consequences when using LLMs to make decisions, particularly for…

Computation and Language · Computer Science 2024-01-10 Abel Salinas , Parth Vipul Shah , Yuzhong Huang , Robert McCormack , Fred Morstatter

The human MHC transplantation loci (HLA-A, -B, -C, -DPB1, -DQB1, -DRB1) are the most polymorphic in the human genome. It is generally accepted this polymorphism reflects a role in presenting pathogen-derived peptide to the adaptive immune…

Populations and Evolution · Quantitative Biology 2025-01-03 D. P. L. Green

In life sciences, the experts generally use empirical knowledge to recode variables, choose interactions and perform selection by classical approach. The aim of this work is to perform automatic learning algorithm for variables selection…

Machine Learning · Statistics 2015-11-05 Bienvenue Kouwayè , Noël Fonton , Fabrice Rossi

Background: Heritability is a central measure in genetics quantifying how much of the variability observed in a trait is attributable to genetic differences. Existing methods for estimating heritability are most often based on random-effect…

Applications · Statistics 2022-08-26 The Tien Mai , Paul Turner , Jukka Corander

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

We propose an L1-penalized algorithm for fitting high-dimensional generalized linear mixed models. Generalized linear mixed models (GLMMs) can be viewed as an extension of generalized linear models for clustered observations. This…

Computation · Statistics 2014-06-03 Jürg Schelldorfer , Lukas Meier , Peter Bühlmann

Identifying shared genetic risk factors for multiple measured traits has been of great interest in studying complex disorders. Marlow's (2003) method for detecting shared gene effects on complex traits has been highly influential in the…

Methodology · Statistics 2009-04-16 Summer S. Han , Elena L. Grigorenko , Joseph T. Chang

Polygenic risk scores can be used to model the individual genetic liability for human traits. Current methods primarily focus on modeling the mean of a phenotype neglecting the variance. However, genetic variants associated with phenotypic…

Applications · Statistics 2025-09-26 Qiong Wu , Hannah Klinkhammer , Kiran Kunwar , Christian Staerk , Carlo Maj , Andreas Mayr

Omic data are characterized by the presence of strong dependence structures that result either from data acquisition or from some underlying biological processes. In metabolomics, for instance, data resulting from Liquid Chromatography-Mass…

Because biological processes can make different loci have different evolutionary histories, species tree estimation requires multiple loci from across the genome. While many processes can result in discord between gene trees and species…

Quantitative Methods · Quantitative Biology 2018-03-13 Md. Shamsuzzoha Bayzid , Siavash Mirarab , Bastien Boussau , Tandy Warnow

Association testing aims to discover the underlying relationship between genotypes (usually Single Nucleotide Polymorphisms, or SNPs) and phenotypes (attributes, or traits). The typically large data sets used in association testing often…

Applications · Statistics 2012-07-04 Zhen Li , Vikneswaran Gopal , Xiaobo Li , John M. Davis , George Casella