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Polygenic risk scores (PRS) developed from genome-wide association studies (GWAS) can be used for risk stratification by quantifying the genetic contribution to disease, and many clinical applications have been proposed. Bayesian methods…

Methodology · Statistics 2026-03-11 Yuzheng Dun , Nilanjan Chatterjee , Jin Jin , Akihiko Nishimura

Comparing allele frequencies among populations that differ in environment has long been a tool for detecting loci involved in local adaptation. However, such analyses are complicated by an imperfect knowledge of population allele…

Populations and Evolution · Quantitative Biology 2012-09-17 Torsten Günther , Graham Coop

As a living information and communications system, the genome encodes patterns in single nucleotide polymorphisms (SNPs) reflecting human adaption that optimizes population survival in differing environments. This paper mathematically…

Populations and Evolution · Quantitative Biology 2018-03-22 James Lindesay , Tshela E. Mason , William Hercules , Georgia M. Dunston

Randomized controlled trials are the gold standard for measuring causal effects. However, they are often not always feasible, and causal treatment effects must be estimated from observational data. Observational studies do not allow robust…

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

Tuning of model-based boosting algorithms relies mainly on the number of iterations, while the step-length is fixed at a predefined value. For complex models with several predictors such as Generalized Additive Models for Location, Scale…

Methodology · Statistics 2021-02-19 Boyao Zhang , Tobias Hepp , Sonja Greven , Elisabeth Bergherr

In genetic association studies, detecting phenotype-genotype association is a primary goal. We assume that the relationship between the data -phenotype, genetic markers and environmental covariates - can be modelled by a generalized linear…

Methodology · Statistics 2020-04-13 K. K. Halle , Ø. Bakke , S. Djurovic , A. Bye , E. Ryeng , U. Wisløff , O. A. Andreassen , M. Langaas

Survival analysis is a statistical framework for modeling time-to-event data. It plays a pivotal role in medicine, reliability engineering, and social science research, where understanding event dynamics even with few data samples is…

Machine Learning · Computer Science 2026-02-03 Alberto Archetti , Eugenio Lomurno , Diego Piccinotti , Matteo Matteucci

Propensity Score Matching (PSM) is a causal inference technique that is used as a substitution for experimental methods when it is not possible to implement them due to logistical and ethical concerns. By using a logistic classifier to…

Applications · Statistics 2025-01-15 Elizabeth Mohney , Alexey Shvets

Genetic interaction can be defined as a deviation of the phenotypic quantitative effect of a double gene mutation from the effect predicted from single mutations using a simple (e.g., multiplicative or linear additive) statistical model.…

Molecular Networks · Quantitative Biology 2015-04-24 Laurence Calzone , Emmanuel Barillot , Andrei Zinovyev

In genetic association studies, rare variants with extremely small allele frequency play a crucial role in complex traits, and the set-based testing methods that jointly assess the effects of groups of single nucleotide polymorphisms (SNPs)…

Methodology · Statistics 2020-03-13 Shonosuke Sugasawa , Hisashi Noma

Identifying disease-associated genes enables the development of precision medicine and the understanding of biological processes. Genome-wide association studies (GWAS), gene expression data, biological pathway analysis, and protein network…

Genomics · Quantitative Biology 2026-03-10 Muhammad Muneeb , David B. Ascher , YooChan Myung

As the amount and complexity of genetic information increases it is necessary that we explore some efficient ways of handling these data. This study takes the "divide and conquer" approach for analyzing high dimensional genomic data. Our…

Applications · Statistics 2013-08-15 Deniz Akdemir

Species distribution models (SDMs), which aim to predict species occurrence based on environmental variables, are widely used to monitor and respond to biodiversity change. Recent deep learning advances for SDMs have been shown to perform…

Machine Learning · Computer Science 2025-11-14 Catherine Villeneuve , Benjamin Akera , Mélisande Teng , David Rolnick

The analysis of cancer genomic data has long suffered "the curse of dimensionality". Sample sizes for most cancer genomic studies are a few hundreds at most while there are tens of thousands of genomic features studied. Various methods have…

Machine Learning · Statistics 2018-03-14 Li Zeng , Zhaolong Yu , Hongyu Zhao

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…

We consider an infinitely large population under stabilising selection and mutation in which the allelic effects determining a polygenic trait vary between loci. We obtain analytical expressions for the stationary genetic variance as a…

Populations and Evolution · Quantitative Biology 2016-01-13 Kavita Jain , Wolfgang Stephan

Many single-target regression problems require estimates of uncertainty along with the point predictions. Probabilistic regression algorithms are well-suited for these tasks. However, the options are much more limited when the prediction…

Machine Learning · Statistics 2021-06-08 Michael O'Malley , Adam M. Sykulski , Rick Lumpkin , Alejandro Schuler

Having a precise knowledge of the dispersal ability of a population in a heterogeneous environment is of critical importance in agroecology and conservation biology as it can provide management tools to limit the effects of pests or to…

Populations and Evolution · Quantitative Biology 2015-03-19 L. Roques , E. Walker , P. Franck , S. Soubeyrand , E. K. Klein

Joint Models for longitudinal and time-to-event data have gained a lot of attention in the last few years as they are a helpful technique to approach common a data structure in clinical studies where longitudinal outcomes are recorded…

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