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Natural direct and indirect effects decompose the effect of a treatment into the part that is mediated by a covariate (the mediator) and the part that is not. Their definitions rely on the concept of outcomes under treatment with the…

Methodology · Statistics 2015-09-02 Judith J. Lok

Suppose, contrary to fact, in 1950, we had put the cohort of 18 year old non-smoking American men on a stringent mandatory diet that guaranteed that no one would ever weigh more than their baseline weight established at age 18. How would…

Applications · Statistics 2008-02-06 James Robins

Many common diseases have a complex genetic basis in which large numbers of genetic variations combine with environmental and lifestyle factors to determine risk. However, quantifying such polygenic effects and their relationship to disease…

The additive genetic effect is arguably the most important quantity inferred in animal and plant breeding analyses. The term effect indicates that it represents causal information, which is different from standard statistical concepts as…

Quantitative Methods · Quantitative Biology 2015-04-27 Bruno Dourado Valente , Gota Morota , Guilherme Jordao Magalhaes Rosa , Daniel Gianola , Kent Weigel

Profiling of whole transcriptomes has become a cornerstone of molecular biology and an invaluable tool for the characterization of clinical phenotypes and the identification of disease subtypes. Analyses of these data are becoming ever more…

Molecular Networks · Quantitative Biology 2021-01-12 Deborah Weighill , Marouen Ben Guebila , Kimberly Glass , John Platig , Jen Jen Yeh , John Quackenbush

We introduce a model of molecular evolution in which the fitness of an individual depends both on its own and on the parent's genotype. The model can be solved by means of a nonlinear mapping onto the standard quasispecies model. The…

Biological Physics · Physics 2009-11-07 Claus O. Wilke

1) Micro-evolutionary predictions are complicated by ecological feedbacks like density dependence, while ecological predictions can be complicated by evolutionary change. A widely used approach in micro-evolution, quantitative genetics,…

Populations and Evolution · Quantitative Biology 2015-09-07 Tim Coulson , Floriane Plard , Susanne Schindler , Arpat Ozgul , Jean-Michel Gaillard

Through genome-wide association studies (GWAS), disease susceptible genetic variables can be identified by comparing the genetic data of individuals with and without a specific disease. However, the discovery of these associations poses a…

Machine Learning · Computer Science 2023-08-15 Zhendong Sha , Yuanzhu Chen , Ting Hu

Statistical matching methods are widely used in the social and health sciences to estimate causal effects using observational data. Often the objective is to find comparable groups with similar covariate distributions in a dataset, with the…

Applications · Statistics 2021-01-19 Felix Bestehorn , Maike Bestehorn , Christian Kirches

Deep generative models open new avenues for simulating realistic genomic data while preserving privacy and addressing data accessibility constraints. While previous studies have primarily focused on generating gene expression or haplotype…

Genomics · Quantitative Biology 2025-08-14 Sihan Xie , Thierry Tribout , Didier Boichard , Blaise Hanczar , Julien Chiquet , Eric Barrey

To date, most genetic analyses of phenotypes have focused on analyzing single traits or, analyzing each phenotype independently. However, joint epistasis analysis of multiple complementary traits will increase statistical power, and hold…

Genomics · Quantitative Biology 2015-12-04 Futao Zhang , Dan Xie , Meimei Liang , Momiao Xiong

RNA sequencing allows one to study allelic imbalance of gene expression, which may be due to genetic factors or genomic imprinting. It is desirable to model both genetic and parent-of-origin effects simultaneously to avoid confounding and…

Applications · Statistics 2017-05-08 Vasyl Zhabotynsky , Wei Sun , Kaoru Inoue , Terry Magnuson , Mauro Calabrese

Genomic phenotypes, such as DNA methylation and chromatin accessibility, can be used to characterize the transcriptional and regulatory activity of DNA within a cell. Recent technological advances have made it possible to measure such…

Methodology · Statistics 2016-11-15 Jean Morrison , Noah Simon , Daniela Witten

Genome-wide association studies(GWAS) have proven to be highly useful in revealing the genetic basis of complex diseases. At present, most GWAS are studies of a particular single disease diagnosis against controls. However, in practice, an…

Genomics · Quantitative Biology 2021-01-01 Liangying Yin , Carlos Kwan-long Chau , Yu-Ping Lin , Pak-Chung Sham , Hon-Cheong So

The comparison of different medical treatments from observational studies or across different clinical studies is often biased by confounding factors such as systematic differences in patient demographics or in the inclusion criteria for…

Methodology · Statistics 2025-05-15 Ekkehard Glimm , Lillian Yau

This paper shows how to use a randomized saturation experimental design to identify and estimate causal effects in the presence of spillovers--one person's treatment may affect another's outcome--and one-sided non-compliance--subjects can…

It is becoming increasingly clear that complex interactions among genes and environmental factors play crucial roles in triggering complex diseases. Thus, understanding such interactions is vital, which is possible only through statistical…

Applications · Statistics 2020-05-04 Durba Bhattacharya , Sourabh Bhattacharya

Disease identification is a core, routine activity in observational health research. Cohorts impact downstream analyses, such as how a condition is characterized, how patient risk is defined, and what treatments are studied. It is thus…

Other Quantitative Biology · Quantitative Biology 2022-08-30 Tony Y. Sun , Shreyas Bhave , Jaan Altosaar , Noémie Elhadad

A computational challenge to validate the candidate disease genes identified in a high-throughput genomic study is to elucidate the associations between the set of candidate genes and disease phenotypes. The conventional gene set enrichment…

Genomics · Quantitative Biology 2011-02-22 TaeHyun Hwang , Wei Zhang , Maoqiang Xie , Rui Kuang

Quantitatively predicting phenotype variables by the expression changes in a set of candidate genes is of great interest in molecular biology but it is also a challenging task for several reasons. First, the collected biological…

Applications · Statistics 2017-07-21 Emilie Devijver , Mélina Gallopin , Emeline Perthame