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It is generally acknowledged that most complex diseases are affected in part by interactions between genes and genes and/or between genes and environmental factors. Taking into account environmental exposures and their interactions with…

Applications · Statistics 2014-06-19 Flora Alarcon , Vittorio Perduca , Gregory Nuel

Motivation: Modern bioinformatics workflows, particularly in imaging and representation learning, can generate thousands to tens of thousands of quantitative phenotypes from a single cohort. In such settings, running genome-wide association…

Distributed, Parallel, and Cluster Computing · Computer Science 2026-04-24 Xingzhong Zhao , Ziqian Xie , Islam , Sheikh Muhammad Saiful , Tian Xia , Chen , Cheng , Degui Zhi

Motivation: In spite of great success of genome-wide association studies (GWAS), multiple challenges still remain. First, complex traits are often associated with many single nucleotide polymorphisms (SNPs), each with small or moderate…

Where causal SNPs (single nucleotide polymorphisms) tend to accumulate within biological pathways, the incorporation of prior pathways information into a statistical model is expected to increase the power to detect true associations in a…

Methodology · Statistics 2012-01-30 Matt Silver , Giovanni Montana

Data integration is essential across diverse domains, from historical records to biomedical research, facilitating joint statistical inference. A crucial initial step in this process involves merging multiple data sources based on matching…

Methodology · Statistics 2025-12-15 Trisha Dawn , Jesús Arroyo

Reproducibility in genome-wide association studies (GWAS) is crucial for ensuring reliable genomic research outcomes. However, limited access to original genomic datasets (mainly due to privacy concerns) prevents researchers from…

Genomics · Quantitative Biology 2024-11-19 Yuzhou Jiang , Erman Ayday

Genome-wide association studies (GWAS) have emerged as a rich source of genetic clues into disease biology, and they have revealed strong genetic correlations among many diseases and traits. Some of these genetic correlations may reflect…

Methodology · Statistics 2018-11-28 Luke J. O'Connor , Alkes L. Price

Mapping genotypes to phenotypes (G2P) is a fundamental goal in biology. So called PhyloG2P methods are a relatively new set of tools that leverage replicated evolution in phylogenetically independent lineages to identify genomic regions…

Populations and Evolution · Quantitative Biology 2025-10-20 Arlie R. Macdonald , Maddie E. James , Jonathan D. Mitchell , Barbara R. Holland

The paramount importance of replicating associations is well recognized in the genome-wide associaton (GWA) research community, yet methods for assessing replicability of associations are scarce. Published GWA studies often combine…

Methodology · Statistics 2014-04-30 Ruth Heller , Daniel Yekutieli

Morphogenesis is the biological process that causes the emergence and changes of patterns (tissues and organs) in living organisms. It is a robust, self-organising mechanism, governed by Genetic Regulatory Networks (GRN), that hasn't been…

Molecular Networks · Quantitative Biology 2026-03-17 Yuriria Cortes-Poza , J. Rogelio Perez-Buendia

Reductions in natural habitats urge that we better understand species' interconnection and how biological communities respond to environmental changes. However, ecological studies of species' interactions are limited by their geographic and…

Methodology · Statistics 2023-02-21 Georgia Papadogeorgou , Carolina Bello , Otso Ovaskainen , David B. Dunson

GWAS in humans are revealing the genetic architecture of biomedical and anthropomorphic traits, i.e., the frequencies and effect sizes of variants that contribute to heritable variation in a trait. To interpret these findings, we need to…

Populations and Evolution · Quantitative Biology 2018-03-29 Yuval B. Simons , Kevin Bullaughey , Richard R. Hudson , Guy Sella

In modern scientific studies, it is often imperative to determine whether a set of phenotypes is affected by a single factor. If such an influence is identified, it becomes essential to discern whether this effect is contingent upon…

Methodology · Statistics 2024-03-22 Srijan Chattopadhyay , Swapnaneel Bhattacharyya , Sevantee Basu

Phylogenetic inference, grounded in molecular evolution models, is essential for understanding the evolutionary relationships in biological data. Accounting for the uncertainty of phylogenetic tree variables, which include tree topologies…

Machine Learning · Computer Science 2023-12-04 Takahiro Mimori , Michiaki Hamada

A looming question that must be solved before robotic plant phenotyping capabilities can have significant impact to crop improvement programs is scalability. High Throughput Phenotyping (HTP) uses robotic technologies to analyze crops in…

Machine Learning · Computer Science 2019-01-23 Sumit Kumar , Wenhao Luo , George Kantor , Katia Sycara

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

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

Gene expression prediction plays a vital role in transcriptome-wide association studies (TWAS), which seek to establish associations between tissue gene expression and complex traits. Traditional models rely on genetic variants in close…

Molecular Networks · Quantitative Biology 2024-08-19 Gutama Ibrahim Mohammad , Tom Michoel

Motivation: Genome-wide association studies (GWAS) have successfully identified thousands of genetic risk loci for complex traits and diseases. Most of these GWAS loci lie in regulatory regions of the genome and the gene through which each…

Quantitative Methods · Quantitative Biology 2022-10-31 Leonardo Martini , Adriano Fazzone , Michele Gentili , Luca Becchetti , Brian Hobbs

Plant developmental plasticity, particularly in root system architecture, is fundamental to understanding adaptability and agricultural sustainability. ChronoRoot 2.0 builds upon established low-cost hardware while significantly enhancing…