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In genome-wide association studies (GWAS), penalization is an important approach for identifying genetic markers associated with trait while mixed model is successful in accounting for a complicated dependence structure among samples.…

Methodology · Statistics 2013-05-21 Jin Liu , Can Yang , Xingjie Shi , Cong Li , Jian Huang , Hongyu Zhao , Shuangge Ma

A critical task in systems biology is the identification of genes that interact to control cellular processes by transcriptional activation of a set of target genes. Many methods have been developed to use statistical correlations in…

Quantitative Methods · Quantitative Biology 2010-11-24 Adam A. Margolin , Kai Wang , Andrea Califano , Ilya Nemenman

Genetic interactions play an important role in the progression of complex diseases, providing explanation of variations in disease phenotype missed by main genetic effects. Comparatively, there are fewer investigations on prognostic…

Methodology · Statistics 2021-09-23 Xing Qin , Shuangge Ma , Mengyun Wu

Phylogenetic trait evolution models allow for the estimation of evolutionary correlations between a set of traits observed in a sample of related organisms. By directly modeling the evolution of the traits along an estimable phylogenetic…

Clinical end-point traits are often characterized by quantitative or qualitative precursors and it has been argued that it may be statistically a more powerful strategy to analyze these precursor traits to decipher the genetic architecture…

Methodology · Statistics 2025-04-17 Soumya Sahu , Saurabh Ghosh

Expression quantitative trait loci (eQTL) analyses, which identify genetic markers associated with the expression of a gene, are an important tool in the understanding of diseases in human and other populations. While most eQTL studies to…

Methodology · Statistics 2017-09-08 Gen Li , Andrey A. Shabalin , Ivan Rusyn , Fred A. Wright , Andrew B. Nobel

Estimated connectomes by the means of neuroimaging techniques have enriched our knowledge of the organizational properties of the brain leading to the development of network-based clinical diagnostics. Unfortunately, to date, many of those…

Neurons and Cognition · Quantitative Biology 2018-05-31 Roseric Azondekon , Zachary James Harper , Charles Michael Welzig

Using brain imaging quantitative traits (QTs) to identify the genetic risk factors is an important research topic in imaging genetics. Many efforts have been made via building linear models, e.g. linear regression (LR), to extract the…

Genome-wide association studies have proven to be essential for understanding the genetic basis of disease. However, many complex traits---personality traits, facial features, disease subtyping---are inherently high-dimensional, impeding…

Applications · Statistics 2015-12-09 Ashlee Valente , Geoffrey Ginsburg , Barbara E Engelhardt

Genome-wide association studies (GWAS) suggests that a complex disease is typically affected by many genetic variants with small or moderate effects. Identification of these risk variants remains to be a very challenging problem.…

Methodology · Statistics 2014-01-21 Dongjun Chung , Can Yang , Cong Li , Joel Gelernter , Hongyu Zhao

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors, of which 15-25% develop metastatic disease with 5-year survival rates reported as low as 34%. PPGL may indicate hereditary syndromes requiring stricter,…

Computer Vision and Pattern Recognition · Computer Science 2026-03-24 Zelin Liu , Xiangfu Yu , Jie Huang , Ge Wang , Yizhe Yuan , Zhenyu Yi , Jing Xie , Haotian Jiang , Lichi Zhang

The fitness landscape defines the relationship between genotypes and fitness in a given environment, and underlies fundamental quantities such as the distribution of selection coefficient, or the magnitude and type of epistasis. A better…

Populations and Evolution · Quantitative Biology 2016-05-18 François Blanquart , Thomas Bataillon

Thousands of risk variants underlying complex phenotypes (quantitative traits and diseases) have been identified in genome-wide association studies (GWAS). However, there are still two major challenges towards deepening our understanding of…

Methodology · Statistics 2017-10-20 Jingsi Ming , Mingwei Dai , Mingxuan Cai , Xiang Wan , Jin Liu , Can Yang

The advent of plant phenomics, coupled with the wealth of genotypic data generated by next-generation sequencing technologies, provides exciting new resources for investigations into and improvement of complex traits. However, these new…

Genomics · Quantitative Biology 2019-04-30 Gota Morota , Diego Jarquin , Malachy T. Campbell , Hiroyoshi Iwata

Genetic association analyses often involve data from multiple potentially-heterogeneous subgroups. The expected amount of heterogeneity can vary from modest (e.g., a typical meta-analysis) to large (e.g., a strong gene--environment…

Methodology · Statistics 2014-04-15 Xiaoquan Wen , Matthew Stephens

Genotypic fitness landscapes are constructed by assessing the fitness of all possible combinations of a given number of mutations. In the last years, several experimental fitness landscapes have been completely resolved. As fitness…

Populations and Evolution · Quantitative Biology 2015-07-02 Luca Ferretti , Daniel Weinreich , Benjamin Schmiegelt , Atsushi Yamauchi , Yutaka Kobayashi , Fumio Tajima , Guillaume Achaz

The genotype-fitness map plays a fundamental role in shaping the dynamics of evolution. However, it is difficult to directly measure a fitness landscape in practice, because the number of possible genotypes is astronomical. One approach is…

Populations and Evolution · Quantitative Biology 2014-11-11 Jakub Otwinowski , Joshua B. Plotkin

One component of precision medicine is to construct prediction models with their predictive ability as high as possible, e.g. to enable individual risk prediction. In genetic epidemiology, complex diseases have a polygenic basis and a…

Machine Learning · Statistics 2019-01-28 Damian Gola , Inke R. König

Approaches to gene interactions based on sign epistasis have been highly influential in recent time. Sign epistasis is useful for relating local and global properties of fitness landscapes, as well as for analyzing evolutionary trajectories…

Populations and Evolution · Quantitative Biology 2018-02-15 Kristina Crona

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