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Gene set analysis (GSA) is a foundational approach for interpreting genomic data of diseases by linking genes to biological processes. However, conventional GSA methods overlook clinical context of the analyses, often generating long lists…

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

Motivation: Predictive modelling of gene expression is a powerful framework for the in silico exploration of transcriptional regulatory interactions through the integration of high-throughput -omics data. A major limitation of previous…

Genomics · Quantitative Biology 2018-08-14 David M Budden , Daniel G Hurley , Edmund J Crampin

Phylogenetic trees are ubiquitous and central to biology, but most published trees are available only as visual diagrams and not in the machine-readable newick format. There are thus thousands of published trees in the scientific literature…

Populations and Evolution · Quantitative Biology 2025-08-12 John B. Allard , Sudhir Kumar

Automatic log analysis is essential for the efficient Operation and Maintenance (O&M) of software systems, providing critical insights into system behaviors. However, existing approaches mostly treat log analysis as training a model to…

Software Engineering · Computer Science 2025-01-10 Yilun Liu , Yuhe Ji , Shimin Tao , Minggui He , Weibin Meng , Shenglin Zhang , Yongqian Sun , Yuming Xie , Boxing Chen , Hao Yang

Summary: We present a new tool to correct sequencing errors in Illumina data produced from high-coverage whole-genome shotgun resequencing. It uses a non-greedy algorithm and shows comparable performance and higher accuracy in an evaluation…

Genomics · Quantitative Biology 2015-02-13 Heng Li

The cell cycle is one of the most fundamental biological processes important for understanding normal physiology and various pathologies such as cancer. Single cell RNA sequencing technologies give an opportunity to analyse the cell cycle…

Quantitative Methods · Quantitative Biology 2022-08-11 Alexander Chervov , Andrei Zinovyev

Understanding which genes control which traits in an organism remains one of the central challenges in biology. Despite significant advances in data collection technology, our ability to map genes to traits is still limited. This…

Genomics · Quantitative Biology 2025-08-22 Manuel Serna-Aguilera , Fiona L. Goggin , Aranyak Goswami , Alexander Bucksch , Suxing Liu , Khoa Luu

Tool-augmented LLMs are a promising approach to create AI agents that can have realistic conversations, follow procedures, and call appropriate functions. However, evaluating them is challenging due to the diversity of possible…

Computation and Language · Computer Science 2024-10-11 Samuel Arcadinho , David Aparicio , Mariana Almeida

Large language models (LLMs) offer significant potential to accelerate systematic literature reviews (SLRs), yet current approaches often rely on brittle, manually crafted prompts that compromise reliability and reproducibility. This…

Computation and Language · Computer Science 2025-09-03 Teo Susnjak

Chromosome analysis is vital for diagnosing genetic disorders and guiding cancer therapy decisions through the identification of somatic clonal aberrations. However, developing an AI model are hindered by the overwhelming complexity and…

Quantitative Methods · Quantitative Biology 2025-05-23 Changchun Yang , Weiqian Dai , Yilan Zhang , Siyuan Chen , Jingdong Hu , Junkai Su , Yuxuan Chen , Ao Xu , Na Li , Xin Gao , Yongguo Yu

To generate synthetic datasets, e.g., in domains such as healthcare, the literature proposes approaches of two main types: Probabilistic Graphical Models (PGMs) and Deep Learning models, such as LLMs. While PGMs produce synthetic data that…

Databases · Computer Science 2026-03-31 Antheas Kapenekakis , Bent Thomsen , Katja Hose , Michele Albano

Reproducibility is an important requirement in evolutionary computation, where results largely depend on computational experiments. In practice, reproducibility relies on how algorithms, experimental protocols, and artifacts are documented…

Neural and Evolutionary Computing · Computer Science 2026-02-10 Francesca Da Ros , Tarik Začiragić , Aske Plaat , Thomas Bäck , Niki van Stein

One of the important questions in biological evolution is to know if certain changes along protein coding genes have contributed to the adaptation of species. This problem is known to be biologically complex and computationally very…

Distributed, Parallel, and Cluster Computing · Computer Science 2012-03-15 Sébastien Moretti , Riccardo Murri , Sergio Maffioletti , Arnold Kuzniar , Briséïs Castella , Nicolas Salamin , Marc Robinson-Rechavi , Heinz Stockinger

Test collections are information-retrieval tools that allow researchers to quickly and easily evaluate ranking algorithms. While test collections have become an integral part of IR research, the process of data creation involves significant…

Information Retrieval · Computer Science 2025-07-15 Rikiya Takehi , Ellen M. Voorhees , Tetsuya Sakai , Ian Soboroff

Large Language Models (LLMs) are increasingly integrated into critical decision-making pipelines, a trend that raises the demand for robust and automated data analysis. Current approaches to dataset risk analysis are limited to manual…

Artificial Intelligence · Computer Science 2026-05-28 Panteleimon Rodis

One of the basic questions of phylogenomics is how gene function evolves, whether among species or inside gene families. In this chapter, we provide a brief overview of the problems associated with defining gene function in a manner which…

Populations and Evolution · Quantitative Biology 2019-10-08 Marc Robinson-Rechavi

A graph is a fundamental data model to represent various entities and their complex relationships in society and nature, such as social networks, transportation networks, and financial networks. Recently, large language models (LLMs) have…

Computation and Language · Computer Science 2025-07-08 Wenbo Shang , Xin Huang

Instruction tuning large language models (LLMs) remains a challenging task, owing to the complexity of hyperparameter selection and the difficulty involved in evaluating the tuned models. To determine the optimal hyperparameters, an…

Computation and Language · Computer Science 2024-05-27 Yidong Wang , Zhuohao Yu , Zhengran Zeng , Linyi Yang , Cunxiang Wang , Hao Chen , Chaoya Jiang , Rui Xie , Jindong Wang , Xing Xie , Wei Ye , Shikun Zhang , Yue Zhang

Motivation: Illumina DNA sequencing is now the predominant source of raw genomic data, and data volumes are growing rapidly. Bioinformatic analysis pipelines are having trouble keeping pace. A common bottleneck in such pipelines is the…

Genomics · Quantitative Biology 2014-09-09 Gregory G. Faust , Ira M. Hall
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