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Adoption of recently developed methods from machine learning has given rise to creation of drug-discovery knowledge graphs (KG) that utilize the interconnected nature of the domain. Graph-based modelling of the data, combined with KG…

Machine Learning · Computer Science 2022-07-27 Stephen Bonner , Ufuk Kirik , Ola Engkvist , Jian Tang , Ian P Barrett

Genome Wide Association Studies (GWAS) are used to identify statistically significant genetic variants in case-control studies. GWAS typically use a p-value threshold of 5 x 10-8 to identify highly ranked single nucleotide polymorphisms…

Computational Engineering, Finance, and Science · Computer Science 2018-01-10 Paul Fergus , Casimiro Curbelo Montanez , Basma Abdulaimma , Paulo Lisboa , Carl Chalmers

Learning causal relationships solely from observational data often fails to reveal the underlying causal mechanisms due to the vast search space of possible causal graphs, which can grow exponentially, especially for greedy algorithms using…

Artificial Intelligence · Computer Science 2024-07-09 Uzma Hasan , Md Osman Gani

Knowledge graphs (KGs) can provide structured scientific context to language models, but it remains unclear which graph facts actually shape the generated hypotheses. We study KG-guided hypothesis generation for battery materials across…

Artificial Intelligence · Computer Science 2026-05-29 Shashwat Sourav , Viktoriia Baibakova , Sanjay Das , Ran Elgedawy , Maria Mahbub , Emily Herron , Tirthankar Ghosal

The recent explosion of genetic and high dimensional biobank and 'omic' data has provided researchers with the opportunity to investigate the shared genetic origin (pleiotropy) of hundreds to thousands of related phenotypes. However,…

Methodology · Statistics 2023-03-21 Weiqiong Huang , Emily C. Hector , Joshua Cape , Chris McKennan

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

Knowledge Graphs (KG) and associated Knowledge Graph Embedding (KGE) models have recently begun to be explored in the context of drug discovery and have the potential to assist in key challenges such as target identification. In the drug…

Biomolecules · Quantitative Biology 2022-06-01 Stephen Bonner , Ian P Barrett , Cheng Ye , Rowan Swiers , Ola Engkvist , Charles Tapley Hoyt , William L Hamilton

Knowledge Graphs (KG) constitute a flexible representation of complex relationships between entities particularly useful for biomedical data. These KG, however, are very sparse with many missing edges (facts) and the visualisation of the…

Artificial Intelligence · Computer Science 2016-12-08 Armando Vieira

Although genome-wide association studies (GWAS) on complex traits have achieved great successes, the current leading GWAS approaches simply perform to test each genotype-phenotype association separately for each genetic variant. Curiously,…

Applications · Statistics 2022-08-26 The Tien Mai , Pierre Alquier

The majority of common diseases are influenced by multiple genetic and environmental factors such as Cancer. Even though uncovering the main causes of disease is deemed difficult due to the complexity of gene-gene and gene-environment…

Other Computer Science · Computer Science 2017-05-10 Layan Nahlawi

Knowledge graphs (KGs) are powerful tools that codify relational behaviour between entities in knowledge bases. KGs can simultaneously model many different types of subject-predicate-object and higher-order relations. As such, they offer a…

Social and Information Networks · Computer Science 2020-10-27 Charilaos I. Kanatsoulis , Nicholas D. Sidiropoulos

Genetic association studies, in particular the genome-wide association study design, have provided a wealth of novel insights into the aetiology of a wide range of human diseases and traits. The next challenge consists of understanding the…

Automated driving is one of the most active research areas in computer science. Deep learning methods have made remarkable breakthroughs in machine learning in general and in automated driving (AD)in particular. However, there are still…

Robotics · Computer Science 2022-10-18 Juergen Luettin , Sebastian Monka , Cory Henson , Lavdim Halilaj

Biomedical knowledge graphs (KGs) hold rich information on entities such as diseases, drugs, and genes. Predicting missing links in these graphs can boost many important applications, such as drug design and repurposing. Recent work has…

Computation and Language · Computer Science 2021-09-22 Rahul Nadkarni , David Wadden , Iz Beltagy , Noah A. Smith , Hannaneh Hajishirzi , Tom Hope

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

The term life sciences refers to the disciplines that study living organisms and life processes, and include chemistry, biology, medicine, and a range of other related disciplines. Research efforts in life sciences are heavily data-driven,…

Knowledge graphs (KGs) are a popular way to organise information based on ontologies or schemas and have been used across a variety of scenarios from search to recommendation. Despite advances in KGs, representing knowledge remains a…

Artificial Intelligence · Computer Science 2023-10-10 Christos Theodoropoulos , Natasha Mulligan , Thaddeus Stappenbeck , Joao Bettencourt-Silva

The variance component tests used in genomewide association studies of thousands of individuals become computationally exhaustive when multiple traits are analysed in the context of omics studies. We introduce two high-throughput algorithms…

Computational Engineering, Finance, and Science · Computer Science 2012-11-13 Diego Fabregat-Traver , Yurii S. Aulchenko , Paolo Bientinesi

Genome-wide association studies, in which as many as a million single nucleotide polymorphisms (SNP) are measured on several thousand samples, are quickly becoming a common type of study for identifying genetic factors associated with many…

Methodology · Statistics 2010-10-25 Charles Kooperberg , Michael LeBlanc , James Y. Dai , Indika Rajapakse

Knowledge Graph Retrieval-Augmented Generation (KG-RAG) extends the RAG paradigm by incorporating structured knowledge from knowledge graphs, enabling Large Language Models (LLMs) to perform more precise and explainable reasoning. While…

Computation and Language · Computer Science 2026-02-04 Jing Ren , Bowen Li , Ziqi Xu , Xikun Zhang , Haytham Fayek , Xiaodong Li
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