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Genotype networks are a method used in systems biology to study the "innovability" of a set of genotypes having the same phenotype. In the past they have been applied to determine the genetic heterogeneity, and stability to mutations, of…

Populations and Evolution · Quantitative Biology 2015-06-17 Giovanni Marco Dall'Olio , Jaume Bertranpetit , Andreas Wagner , Hafid Laayouni

Genotype-to-phenotype mappings translate genotypic variations such as mutations into phenotypic changes. Neutrality is the observation that some mutations do not lead to phenotypic changes. Studying the search trajectories in genotypic and…

Populations and Evolution · Quantitative Biology 2023-06-26 Ting Hu , Gabriela Ochoa , Wolfgang Banzhaf

The integration of knowledge graphs and graph machine learning (GML) in genomic data analysis offers several opportunities for understanding complex genetic relationships, especially at the RNA level. We present a comprehensive approach for…

Artificial Intelligence · Computer Science 2024-08-06 Shivika Prasanna , Ajay Kumar , Deepthi Rao , Eduardo Simoes , Praveen Rao

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 genotype-phenotype map is an essential object in our understanding of organismal complexity and adaptive properties, determining at once genomic plasticity and those constraints that may limit the ability of genomes to attain…

Populations and Evolution · Quantitative Biology 2015-02-18 Clemente F. Arias , Pablo Catalán , Susanna Manrubia , José A. Cuesta

The association of a given human phenotype to a genetic variant remains a critical challenge for biology. We present a novel system called PhenoLinker capable of associating a score to a phenotype-gene relationship by using heterogeneous…

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

Rapid advances in high-throughput technologies have led to considerable interest in analyzing genome-scale data in the context of biological pathways, with the goal of identifying functional systems that are involved in a given phenotype.…

Quantitative Methods · Quantitative Biology 2015-06-01 Rosemary Braun , Sahil Shah

Automated analysis of imaged phenotypes enables fast and reproducible quantification of biologically relevant features. Despite recent developments, recordings of complex, networked structures, such as: leaf venation patterns, cytoskeletal…

Quantitative Methods · Quantitative Biology 2017-06-01 David Breuer , Zoran Nikoloski

The evolutionary dynamics of molecular populations are strongly dependent on the structure of genotype spaces. The map between genotype and phenotype determines how easily genotype spaces can be navigated and the accessibility of…

Populations and Evolution · Quantitative Biology 2019-07-03 Juan Antonio García-Martín , Pablo Catalán , Susanna Manrubia , José A. Cuesta

Many genetic mutations adversely affect the structure and function of load-bearing soft tissues, with clinical sequelae often responsible for disability or death. Parallel advances in genetics and histomechanical characterization provide…

Tissues and Organs · Quantitative Biology 2023-01-11 Enrui Zhang , Bart Spronck , Jay D. Humphrey , George Em Karniadakis

Networks are fundamental to the study of complex systems, ranging from social contacts, message transactions, to biological regulations and economical networks. In many realistic applications, these networks may vary over time. Modeling and…

Social and Information Networks · Computer Science 2020-04-07 Kun Tu , Jian Li , Don Towsley , Dave Braines , Liam Turner

While we once thought of cancer as single monolithic diseases affecting a specific organ site, we now understand that there are many subtypes of cancer defined by unique patterns of gene mutations. These gene mutational data, which can be…

Quantitative Methods · Quantitative Biology 2017-03-07 Jipeng Qiang , Wei Ding , John Quackenbush , Ping Chen

Unraveling the complexities of Gene Regulatory Networks (GRNs) is crucial for understanding cellular processes and disease mechanisms. Traditional computational methods often struggle with the dynamic nature of these networks. This study…

Machine Learning · Computer Science 2025-03-04 Hakan T. Otal , Abdulhamit Subasi , Furkan Kurt , M. Abdullah Canbaz , Yasin Uzun

Phylogenetic networks provide a means of describing the evolutionary history of sets of species believed to have undergone hybridization or gene flow during their evolution. The mutation process for a set of such species can be modeled as a…

Populations and Evolution · Quantitative Biology 2022-11-23 Travis Barton , Elizabeth Gross , Colby Long , Joseph Rusinko

Understanding how genes influence phenotype across species is a fundamental challenge in genetic engineering, which will facilitate advances in various fields such as crop breeding, conservation biology, and personalized medicine. However,…

Machine Learning · Computer Science 2025-03-11 Mengdi Liu , Zhangyang Gao , Hong Chang , Stan Z. Li , Shiguang Shan , Xilin Chen

The linking genotype to phenotype is the fundamental aim of modern genetics. We focus on study of links between gene expression data and phenotype data through integrative analysis. We propose three approaches. 1) The inherent complexity of…

Quantitative Methods · Quantitative Biology 2015-06-30 Min Xu

Identifying causative genes from patient phenotypes remains a significant challenge in precision medicine, with important implications for the diagnosis and treatment of genetic disorders. We propose a novel graph-based approach for…

Machine Learning · Computer Science 2025-06-17 Kamilia Zaripova , Ege Özsoy , Nassir Navab , Azade Farshad

Genetic mutations can cause disease by disrupting normal gene function. Identifying the disease-causing mutations from millions of genetic variants within an individual patient is a challenging problem. Computational methods which can…

Machine Learning · Computer Science 2021-06-28 Jun Cheng , Carolin Lawrence , Mathias Niepert

Neural networks and evolutionary computation have a rich intertwined history. They most commonly appear together when an evolutionary algorithm optimises the parameters and topology of a neural network for reinforcement learning problems,…

Neural and Evolutionary Computing · Computer Science 2016-04-15 Alexander W. Churchill , Siddharth Sigtia , Chrisantha Fernando
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