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Related papers: Beyond NGS data sharing and towards open science

200 papers

We argue for the need for a new generation of data science solutions that can democratize recent advances in data engineering and artificial intelligence for non-technical users from various disciplines, enabling them to unlock the full…

Evolutionary change over time in the context of data pipelines is certain, especially with regard to the structure and semantics of data as well as to the pipeline operators. Dealing with these changes, i.e. providing long-term maintenance,…

Databases · Computer Science 2025-07-29 Kevin M. Kramer

Systematic reviews, which entail the extraction of data from large numbers of scientific documents, are an ideal avenue for the application of machine learning. They are vital to many fields of science and philanthropy, but are very…

Computation and Language · Computer Science 2020-10-12 Seraphina Goldfarb-Tarrant , Alexander Robertson , Jasmina Lazic , Theodora Tsouloufi , Louise Donnison , Karen Smyth

Infrastructure shapes societies and scientific discovery. Traditional scientific infrastructure, often static and fragmented, leads to issues like data silos, lack of interoperability and reproducibility, and unsustainable short-lived…

Neurons and Cognition · Quantitative Biology 2025-08-15 Satrajit S. Ghosh

Low-cost, high-throughput DNA and RNA sequencing (HTS) data is the backbone of the life sciences. Genome sequencing is now becoming a part of Predictive, Preventive, Personalized, and Participatory (termed 'P4') medicine. All genomic data…

Data science requires time-consuming iterative manual activities. In particular, activities such as data selection, preprocessing, transformation, and mining, highly depend on iterative trial-and-error processes that could be sped-up…

The pipeline leakage problem is a very challenging and critical issue. Solving this problem will save the nation a lot of money, resources and more importantly, it will save the environment. This paper discusses the state-of-the-art of leak…

Signal Processing · Electrical Eng. & Systems 2019-08-27 Uthman Baroudi , Anas Al-Roubaiey , Abdullah Devendiran

Novel technologies in genomics allow creating data in exascale dimension with relatively minor effort of human and laboratory and thus monetary resources compared to capabilities only a decade ago. While the availability of this data…

Distributed, Parallel, and Cluster Computing · Computer Science 2015-11-10 Sandra Gesing , Thomas Richard Connor , Ian Taylor

Nanopore sequencing technology has the potential to render other sequencing technologies obsolete with its ability to generate long reads and provide portability. However, high error rates of the technology pose a challenge while generating…

Genomics · Quantitative Biology 2019-12-20 Damla Senol Cali , Jeremie S. Kim , Saugata Ghose , Can Alkan , Onur Mutlu

Scientific Workflow Systems such as Galaxy and Nextflow are essential for scalable, reproducible, and automated bioinformatics analyses. However, developing and understanding scientific workflows remains challenging for many domain…

Software Engineering · Computer Science 2025-08-18 Khairul Alam , Banani Roy

Molecular simulations are an important tool for research in physics, chemistry, and biology. The capabilities of simulations can be greatly expanded by providing access to advanced sampling methods and techniques that permit calculation of…

Data science pipelines commonly utilize dataframe and array operations for tasks such as data preprocessing, analysis, and machine learning. The most popular tools for these tasks are pandas and NumPy. However, these tools are limited to…

Distributed, Parallel, and Cluster Computing · Computer Science 2024-03-20 Weizheng Lu , Kaisheng He , Xuye Qin , Chengjie Li , Zhong Wang , Tao Yuan , Xia Liao , Feng Zhang , Yueguo Chen , Xiaoyong Du

Major advancements in fields as diverse as biology and quantum computing have relied on a multitude of microscopic techniques. All optical, electron and scanning probe microscopy advanced with new detector technologies and integration of…

Instrumentation and Detectors · Physics 2023-03-01 Rama Vasudevan , Mani Valleti , Maxim Ziatdinov , Gerd Duscher , Suhas Somnath

Modern tools for biological research, especially microscopy, have rapidly advanced in recent years, which has led to the generation of increasingly large amounts of data on a regular basis. The result is that scientists desperately need…

Other Quantitative Biology · Quantitative Biology 2021-08-18 Andrey Andreev , Tom Morrell , Kristin Briney , Sandra Gesing , Uri Manor

Progress in science is deeply bound to the effective use of high-performance computing infrastructures and to the efficient extraction of knowledge from vast amounts of data. Such data comes from different sources that follow a cycle…

Distributed, Parallel, and Cluster Computing · Computer Science 2020-06-15 Rosa M Badia , Jorge Ejarque , Francesc Lordan , Daniele Lezzi , Javier Conejero , Javier Álvarez Cid-Fuentes , Yolanda Becerra , Anna Queralt

Most bioinformatics pipelines consist of software components that are tightly coupled to the logic of the pipeline itself. This limits reusability of the individual components in the pipeline or introduces maintenance overhead when they…

Software Engineering · Computer Science 2021-10-25 Robrecht Cannoodt , Hendrik Cannoodt , Eric Van de Kerckhove , Andy Boschmans , Dries De Maeyer , Toni Verbeiren

Summary: Linear mixed models are a commonly used statistical approach in genome-wide association studies when population structure is present. However, naive permutations to empirically estimate the null distribution of a statistic of…

Genomics · Quantitative Biology 2024-10-03 Saul Pierotti , Tomas Fitzgerald , Ewan Birney

The emergence of R, a freely available data analysis environment, brought to the researcher in any science field a set of well-concerted instruments of immense power and low cost. In botany and zoology, these instruments could be used, for…

Quantitative Methods · Quantitative Biology 2020-02-06 Alexey Shipunov

Cloud infrastructure supports the efficient operation of data pipelines regarding requirements like cost, speed, and resource utilization. We present an integrated view of optimization opportunities for cloud-based data pipelines by…

Distributed, Parallel, and Cluster Computing · Computer Science 2026-04-03 Johannes Jablonski , Georg-Daniel Schwarz , Philip Heltweg , Dirk Riehle

Machine learning (ML) offers powerful methods for detecting and modeling associations often in data with large feature spaces and complex associations. Many useful tools/packages (e.g. scikit-learn) have been developed to make the various…

Machine Learning · Computer Science 2022-06-27 Ryan J. Urbanowicz , Robert Zhang , Yuhan Cui , Pranshu Suri