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Modern DNA sequencing technologies enable geneticists to rapidly identify genetic variation among many human genomes. However, isolating the minority of variants underlying disease remains an important, yet formidable challenge for medical…

Genomics · Quantitative Biology 2015-06-15 Uma Paila , Brad Chapman , Rory Kirchner , Aaron Quinlan

Background: While the importance of gene-gene interactions in human diseases has been well recognized, identifying them has been a great challenge, especially through association studies with millions of genetic markers and thousands of…

Quantitative Methods · Quantitative Biology 2015-05-07 Changshuai Wei , Qing Lu

Ongoing progress in computational intelligence (CI) has led to an increased desire to apply CI techniques for the purpose of improving software engineering processes, particularly software testing. Existing state-of-the-art automated…

Neural and Evolutionary Computing · Computer Science 2023-02-16 Jarrod Goschen , Anna Sergeevna Bosman , Stefan Gruner

Data imputation is an effective way to handle missing data, which is common in practical applications. In this study, we propose and test a novel data imputation process that achieve two important goals: (1) preserve the row-wise…

Machine Learning · Computer Science 2023-09-13 Katrina Chen , Xiuqin Liang , Zheng Ma , Zhibin Zhang

Missing data imputation (MDI) is crucial when dealing with tabular datasets across various domains. Autoencoders can be trained to reconstruct missing values, and graph autoencoders (GAE) can additionally consider similar patterns in the…

Machine Learning · Computer Science 2022-10-20 Lev Telyatnikov , Simone Scardapane

Statistical methods for genomewide association studies (GWAS) continue to improve. However, the increasing volume and variety of genetic and genomic data make computational speed and ease of data manipulation mandatory in future software.…

In Search Based Software Engineering, Genetic Programming has been used for bug fixing, performance improvement and parallelisation of programs through the modification of source code. Where an evolutionary computation algorithm, such as…

Neural and Evolutionary Computing · Computer Science 2012-11-22 Brendan Cody-Kenny , Stephen Barrett

We introduce GenAI-Powered Inference (GPI), a statistical framework for both causal and predictive inference using unstructured data, including text and images. GPI leverages open-source Generative Artificial Intelligence (GenAI) models --…

Machine Learning · Computer Science 2025-09-09 Kosuke Imai , Kentaro Nakamura

Analyzing a functional genomics experiment, such as ATAC-, ChIP- or RNA-sequencing, requires reference data including a genome assembly and gene annotation. These resources can generally be retrieved from different organizations and in…

Genomics · Quantitative Biology 2022-09-05 Siebren Frölich , Maarten van der Sande , Tilman Schäfers , Simon J. van Heeringen

Sequential algorithms are popular for experimental design, enabling emulation, optimisation and inference to be efficiently performed. For most of these applications bespoke software has been developed, but the approach is general and many…

Computation · Statistics 2021-10-18 Matthew A. Fisher , Onur Teymur , Chris. J. Oates

Non-sharable sensitive data collection and analysis in large-scale consortia for genomic research is complicated. Time consuming issues in installing software arise due to different operating systems, software dependencies and running the…

The ability of Generative AI (GAI) technology to automatically check, synthesize and modify software engineering artifacts promises to revolutionize all aspects of software engineering. Using GAI for software engineering tasks is…

Software Engineering · Computer Science 2025-01-07 Marcus Kessel , Colin Atkinson

Self-supervised learning is a popular and powerful method for utilizing large amounts of unlabeled data, for which a wide variety of training objectives have been proposed in the literature. In this study, we perform a Bayesian analysis of…

Machine Learning · Computer Science 2023-02-08 Emanuele Sansone , Robin Manhaeve

Generative Artificial Intelligence (GenAI) tools have become increasingly prevalent in software development, offering assistance to various managerial and technical project activities. Notable examples of these tools include OpenAIs…

Processing high-throughput DNA sequencing data of individuals or populations requires stringing together independent software tools with many parameters, often leading to non-reproducible pipelines and datasets. We developed grenepipe to…

Genomics · Quantitative Biology 2025-01-09 Lucas Czech , Moises Exposito-Alonso

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

The overall aim of the software industry is to ensure delivery of high quality software to the end user. To ensure high quality software, it is required to test software. Testing ensures that software meets user specifications and…

Software Engineering · Computer Science 2014-11-06 Chayanika Sharma , Sangeeta Sabharwal , Ritu Sibal

While artificial intelligence (AI) has become widespread, many commercial AI systems are not yet accessible to individual researchers nor the general public due to the deep knowledge of the systems required to use them. We believe that AI…

Software Testing is a process to identify the quality and reliability of software, which can be achieved through the help of proper test data. However, doing this manually is a difficult task due to the presence of number of predicate nodes…

Software Engineering · Computer Science 2014-01-22 Yeresime Suresh , Santanu Ku. Rath

While often assumed a gold standard, effective human evaluation of text generation remains an important, open area for research. We revisit this problem with a focus on producing consistent evaluations that are reproducible -- over time and…

Computation and Language · Computer Science 2022-11-02 Daniel Khashabi , Gabriel Stanovsky , Jonathan Bragg , Nicholas Lourie , Jungo Kasai , Yejin Choi , Noah A. Smith , Daniel S. Weld
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