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The Critical Assessment of Genome Interpretation (CAGI) aims to advance the state of the art for computational prediction of genetic variant impact, particularly those relevant to disease. The five complete editions of the CAGI community…

Genomics · Quantitative Biology 2024-06-19 The Critical Assessment of Genome Interpretation Consortium

PLINK 1 is a widely used open-source C/C++ toolset for genome-wide association studies (GWAS) and research in population genetics. However, the steady accumulation of data from imputation and whole-genome sequencing studies has exposed a…

The intricate relationship between genetic variation and human diseases has been a focal point of medical research, evidenced by the identification of risk genes regarding specific diseases. The advent of advanced genome sequencing…

Quantitative Methods · Quantitative Biology 2024-01-19 Jiayu Chang , Shiyu Wang , Chen Ling , Zhaohui Qin , Liang Zhao

How to compare whole genome sequences at large scale has not been achieved via conventional methods based on pair-wisely base-to-base comparison; nevertheless, no attention was paid to handle in-one-sitting a number of genomes crossing…

Genomics · Quantitative Biology 2014-03-05 Yuncan Ai , Hannan Ai , Fanmei Meng , Lei Zhao

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

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

Background. Human aging is linked to many prevalent diseases. The aging process is highly influenced by genetic factors. Hence, it is important to identify human aging-related genes. We focus on supervised prediction of such genes. Gene…

Molecular Networks · Quantitative Biology 2020-04-28 Qi Li , Tijana Milenković

The supertree problem asking for a tree displaying a set of consistent input trees has been largely considered for the reconstruction of species trees. Here, we rather explore this framework for the sake of reconstructing a gene tree from a…

Data Structures and Algorithms · Computer Science 2016-10-25 Manuel Lafond , Cédric Chauve , Nadia El-Mabrouk , Aïda Ouangraoua

Drug-target interaction (DTI) prediction is a core task in drug development and precision medicine in the biomedical field. However, traditional machine learning methods generally have the black box problem, which makes it difficult to…

Quantitative Methods · Quantitative Biology 2025-04-30 Wenfeng Dai , Yanhong Wang , Shuai Yan , Qingzhi Yu , Xiang Cheng

Most of the problems in genetic algorithms are very complex and demand a large amount of resources that current technology can not offer. Our purpose was to develop a Java-JINI distributed library that implements Genetic Algorithms with…

Neural and Evolutionary Computing · Computer Science 2016-05-24 Marco AR Erra , Pedro MM Mitra , Agostinho C Rosa

Gene expression analysis holds the key to many biomedical discoveries, yet extracting insights from raw transcriptomic data remains formidable due to the complexity of multiple large, semi-structured files and the need for extensive domain…

Artificial Intelligence · Computer Science 2026-05-19 Haoyang Liu , Yijiang Li , Haohan Wang

Biomarker testing is a laboratory test in oncology that is used in the selection of targeted cancer treatments and helping to avoid ineffective treatments. There exist several types of biomarker tests that can be used to detect the presence…

Quantitative Methods · Quantitative Biology 2022-10-05 Marzieh Soltanolkottabi , Hadi A. Khorshidi , Maarten J. IJzerman

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

Genetic algorithms are heuristic optimization techniques inspired by Darwinian evolution, which are characterized by successfully finding robust solutions for optimization problems. Here, we propose a subroutine-based quantum genetic…

Quantum Physics · Physics 2024-06-07 Rubén Ibarrondo , Giancarlo Gatti , Mikel Sanz

Retrieving the biological impacts of protein-protein interactions (PPIs) is essential for target identification (Target ID) in drug development. Given the vast number of proteins involved, this process remains time-consuming and…

Computation and Language · Computer Science 2025-06-02 Youngseung Jeon , Ziwen Li , Thomas Li , JiaSyuan Chang , Morteza Ziyadi , Xiang 'Anthony' Chen

Since most analysis software for genome-wide association studies (GWAS) currently exploit only unrelated individuals, there is a need for efficient applications that can handle general pedigree data or mixtures of both population and…

Applications · Statistics 2014-12-23 Hua Zhou , John Blangero , Thomas D. Dyer , Kei-hang K. Chan , Kenneth Lange , Eric M. Sobel

Despite significant progress in dissecting the genetic architecture of complex diseases by genome-wide association studies (GWAS), the signals identified by association analysis may not have specific pathological relevance to diseases so…

Genomics · Quantitative Biology 2019-07-19 Rong Jiao , Xiangning Chen , Eric Boerwinkle , Momiao Xiong

Genome-wide association studies (GWAS) identify correlations between the genetic variants and an observable characteristic such as a disease. Previous works presented privacy-preserving distributed algorithms for a federation of genome data…

Distributed, Parallel, and Cluster Computing · Computer Science 2022-09-21 Túlio Pascoal , Jérémie Decouchant , Marcus Völp

Disease heterogeneity has been a critical challenge for precision diagnosis and treatment, especially in neurologic and neuropsychiatric diseases. Many diseases can display multiple distinct brain phenotypes across individuals, potentially…

Combinatorial testing is a widely adopted technique for efficiently detecting faults in software. The quality of combinatorial test generators plays a crucial role in achieving effective test coverage. Evaluating combinatorial test…

Software Engineering · Computer Science 2023-12-19 Andrea Bombarda , Angelo Gargantini