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Predicting complex human traits from genetic data is challenging because different genetic, clinical, and molecular data sources often contain different parts of the signal. Here, we present EFGPP, a reproducible framework for generating,…

Genomics · Quantitative Biology 2026-05-06 Muhammad Muneeb , David B. Ascher

Genome-wide association studies (GWAS) have successfully identified a large number of genetic variants associated with traits and diseases. However, it still remains challenging to fully understand functional mechanisms underlying many…

Genomics · Quantitative Biology 2022-04-15 Qiaolan Deng , Jin Hyun Nam , Ayse Selen Yilmaz , Won Chang , Maciej Pietrzak , Lang Li , Hang J. Kim , Dongjun Chung

High-dimensional phenotypes hold promise for richer findings in association studies, but testing of several phenotype traits aggravates the grand challenge of association studies, that of multiple testing. Several methods have recently been…

Methodology · Statistics 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

In statistical genetics an important task involves building predictive models for the genotype-phenotype relationships and thus attribute a proportion of the total phenotypic variance to the variation in genotypes. Numerous models have been…

Applications · Statistics 2016-03-30 Deniz Akdemir , Jean-Luc Jannink

Imaging genetic studies aim to find associations between genetic variants and imaging quantitative traits. Traditional genome-wide association studies (GWAS) are based on univariate statistical tests, but when multiple traits are analyzed…

Genomics · Quantitative Biology 2022-04-04 Muhammad Ammar Malik , Alexander S. Lundervold , Tom Michoel

Phylogenetic analyses of gene expression have great potential for addressing a wide range of questions. These analyses will, for example, identify genes that have evolutionary shifts in expression that are correlated with evolutionary…

Populations and Evolution · Quantitative Biology 2014-01-14 Casey W. Dunn , Xi Luo , Zhijin Wu

Emerging integrative analysis of genomic and anatomical imaging data which has not been well developed, provides invaluable information for the holistic discovery of the genomic structure of disease and has the potential to open a new…

Genomics · Quantitative Biology 2014-09-16 Junhai Jiang , Nan Lin , Shicheng Guo , Jinyun Chen , Momiao Xiong

Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with human traits or diseases in the past decade. Nevertheless, much of the heritability of many traits is still unaccounted for. Commonly used…

Methodology · Statistics 2022-04-22 Qiaolan Deng , Chi Song , Shili Lin

To date, genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants among a variety of traits/diseases, shedding a light on the genetic architecture of complex diseases. Polygenicity of complex…

Methodology · Statistics 2017-10-27 Yi Yang , Mingwei Dai , Jian Huang , Xinyi Lin , Can Yang , Jin Liu , Min Chen

Advances of modern sensing and sequencing technologies generate a deluge of high dimensional space-temporal physiological and next-generation sequencing (NGS) data. Physiological traits are observed either as continuous random functions, or…

Machine Learning · Statistics 2014-10-28 L. Ma , N. Lin , C. I. Amos , M. M. Xiong

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

Biochemical and regulatory interactions central to biological networks are expected to cause extensive genetic interactions or epistasis affecting the heritability of complex traits and the distribution of genotypes in populations. However,…

Populations and Evolution · Quantitative Biology 2009-12-15 Richard A. Neher , Boris I. Shraiman

Multi-trait genome-wide association studies (GWAS) use multi-variate statistical methods to identify associations between genetic variants and multiple correlated traits simultaneously, and have higher statistical power than independent…

Genomics · Quantitative Biology 2022-02-10 Muhammad Ammar Malik , Adriaan-Alexander Ludl , Tom Michoel

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

Rapid advancements in collection and dissemination of multi-platform molecular and genomics data has resulted in enormous opportunities to aggregate such data in order to understand, prevent, and treat human diseases. While significant…

Rooted in genetics, human complex diseases are largely influenced by environmental factors. Existing literature has shown the power of integrative gene-environment interaction analysis by considering the joint effect of environmental…

Methodology · Statistics 2022-08-26 Jingyi Zhang , Xu Liu , Honglang Wang , Yuehua Cui

Functional protein-protein interactions are crucial in most cellular processes. They enable multi-protein complexes to assemble and to remain stable, and they allow signal transduction in various pathways. Functional interactions between…

Biomolecules · Quantitative Biology 2018-11-14 Anne-Florence Bitbol

2 Diabetes is a leading worldwide public health concern, and its increasing prevalence has significant health and economic importance in all nations. The condition is a multifactorial disorder with a complex aetiology. The genetic…

Machine Learning · Computer Science 2018-08-30 Basma Abdulaimma , Paul Fergus , Carl Chalmers

While progress has been made in identifying common genetic variants associated with human diseases, for most of common complex diseases, the identified genetic variants only account for a small proportion of heritability. Challenges remain…

Applications · Statistics 2025-08-18 Olga A. Vsevolozhskaya , Dmitri V. Zaykin , Mark C. Greenwood , Changshuai Wei , Qing Lu

Genetic association studies for brain connectivity phenotypes have gained prominence due to advances in non-invasive imaging techniques and quantitative genetics. Brain connectivity traits, characterized by network configurations and unique…

Methodology · Statistics 2023-05-17 Xinyuan Tian , Yiting Wang , Selena Wang , Yi Zhao , Yize Zhao