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Economists and social scientists have debated the relative importance of nature (one's genes) and nurture (one's environment) for decades, if not centuries. This debate can now be informed by the ready availability of genetic data in a…

Genetic variants identified to date by genome-wide association studies only explain a small fraction of total heritability. Gene-by-gene interaction is one important potential source of unexplained heritability. In the first part of this…

Methodology · Statistics 2016-05-10 Chen Lu

Due to recent breakthroughs in state-of-the-art DNA sequencing technology, genomics data sets have become ubiquitous. The emergence of large-scale data sets provides great opportunities for better understanding of genomics, especially gene…

Genomics · Quantitative Biology 2020-12-18 Wei Cheng , Ghulam Murtaza , Aaron Wang

The genetic etiologies of common diseases are highly complex and heterogeneous. Classic statistical methods, such as linear regression, have successfully identified numerous genetic variants associated with complex diseases. Nonetheless,…

Applications · Statistics 2020-10-28 Jinghang Lin , Xiaoran Tong , Chenxi Li , Qing Lu

From pathogens and computer viruses to genes and memes, contagion models have found widespread utility across the natural and social sciences. Despite their success and breadth of adoption, the approach and structure of these models remain…

The identification of predefined groups of genes ("gene-sets") which are differentially expressed between two conditions ("gene-set analysis", or GSA) is a very popular analysis in bioinformatics. GSA incorporates biological knowledge by…

Methodology · Statistics 2013-08-14 Nicolas Städler , Sach Mukherjee

Gene interaction graphs aim to capture various relationships between genes and represent decades of biology research. When trying to make predictions from genomic data, those graphs could be used to overcome the curse of dimensionality by…

Responsible for many complex human diseases including cancers, disrupted or abnormal gene interactions can be identified through their expression changes correlating with the progression of a disease. However, the examination of all…

Quantitative Methods · Quantitative Biology 2013-02-18 Salim Chowdhury , Yanjun Qi , Alex Stewart , Rachel Ostroff , Renqiang Min

To evaluate the societal impacts of GenAI requires a model of how social harms emerge from interactions between GenAI, people, and societal structures. Yet a model is rarely explicitly defined in societal impact evaluations, or in the…

Human-Computer Interaction · Computer Science 2024-10-31 Glen Berman , Ned Cooper , Wesley Hanwen Deng , Ben Hutchinson

Biologists and physicists have a rich tradition of modeling living systems with simple models composed of a few interacting components. Despite the remarkable success of this approach, it remains unclear how to use such finely tuned models…

Biological Physics · Physics 2025-09-05 Ilya Nemenman , Pankaj Mehta

The prevalence of dementia has increased over time as global life expectancy improves and populations age. An individual's risk of developing dementia is influenced by various genetic, lifestyle, and environmental factors, among others.…

Neurons and Cognition · Quantitative Biology 2024-01-12 Srilekha Mamidala

Discovering causal genetic variants from large genetic association studies poses many difficult challenges. Assessing which genetic markers are involved in determining trait status is a computationally demanding task, especially in the…

Genomics · Quantitative Biology 2015-04-09 Andrew L. Beam , Alison Motsinger-Reif , Jon Doyle

Our genomes influence nearly every aspect of human biology from molecular and cellular functions to phenotypes in health and disease. Human genetics studies have now associated hundreds of thousands of differences in our DNA sequence…

Other Quantitative Biology · Quantitative Biology 2023-07-27 IGVF Consortium

Genetic mapping sprung in the last decade of the 20th century with the development of statistical procedures putting classical models of genetic effects together with molecular biology techniques. It eventually became clear that those…

Quantitative Methods · Quantitative Biology 2020-05-05 José M. Álvarez-Castro

It is imperative for testing to determine if the components within large-scale software systems operate functionally. Interaction testing involves designing a suite of tests, which guarantees to detect a fault if one exists among a small…

Neural and Evolutionary Computing · Computer Science 2020-02-14 Ryan E. Dougherty

Motivation. Association studies have been widely used to search for associations between common genetic variants observations and a given phenotype. However, it is now generally accepted that genes and environment must be examined jointly…

The advent of high--throughput transcription profiling technologies has enabled identification of genes and pathways associated with disease, providing new avenues for precision medicine. A key challenge is to analyze this data in the…

Quantitative Methods · Quantitative Biology 2019-01-11 Sahil D. Shah , Rosemary Braun

Emergence is a phenomenon taken for granted in science but also still not well understood. We have developed a model of artificial genetic evolution intended to allow for emergence on genetic, population and social levels. We present the…

Populations and Evolution · Quantitative Biology 2015-05-19 Chris Marriott , Jobran Chebib

One primary task of population health analysis is the identification of risk factors that, for some subpopulation, have a significant association with some health condition. Examples include finding lifestyle factors associated with chronic…

Machine Learning · Computer Science 2018-11-29 Alexander New , Sabbir M. Rashid , John S. Erickson , Deborah L. McGuinness , Kristin P. Bennett

The research community continues to seek increasingly more advanced synthetic data generators to reliably evaluate the strengths and limitations of machine learning methods. This work aims to increase the availability of datasets…

Machine Learning · Computer Science 2026-01-30 Joanna Komorniczak