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Optical mapping by direct visualization of individual DNA molecules, stretched in nanochannels with sequence-specific fluorescent labeling, represents a promising tool for disease diagnostics and genomics. An important challenge for this…

Quantitative Methods · Quantitative Biology 2015-01-21 Charleston Noble , Adam N. Nilsson , Camilla Freitag , Jason P. Beech , Jonas O. Tegenfeldt , Tobias Ambjörnsson

This technical note presents a reproducible workflow for converting a legacy archaeological image collection into a structured and segmentation ready dataset. The case study focuses on the Lower Palaeolithic hand axe and biface collection…

Computers and Society · Computer Science 2025-12-16 Juan Palomeque-Gonzalez

In the small phylogeny problem we, are given a phylogenetic tree and gene orders of the extant species and our goal is to reconstruct all of the ancestral genomes so that the number of evolutionary operations is minimized. Algorithms for…

Populations and Evolution · Quantitative Biology 2015-03-17 Jakub Kováč , Broňa Brejová , Tomáš Vinař

Variant calling is a fundamental task in genomic research, essential for detecting genetic variations such as single nucleotide polymorphisms (SNPs) and insertions or deletions (indels). This paper presents an enhancement to DeepChem, a…

Quantitative Methods · Quantitative Biology 2025-07-29 Ankita Vaishnobi Bisoi , Shreyas V , Jose Siguenza , Bharath Ramsundar

The popularity of deep learning is increasing by the day. However, despite the recent advancements in hardware, deep neural networks remain computationally intensive. Recent work has shown that by preserving the angular distance between…

Machine Learning · Computer Science 2018-09-27 Jack Parker-Holder , Sam Gass

The Genomic Foundation Model (GFM) paradigm is expected to facilitate the extraction of generalizable representations from massive genomic data, thereby enabling their application across a spectrum of downstream applications. Despite…

Genomics · Quantitative Biology 2024-06-06 Zicheng Liu , Jiahui Li , Siyuan Li , Zelin Zang , Cheng Tan , Yufei Huang , Yajing Bai , Stan Z. Li

Pattern matching is a powerful tool for symbolic computations. Applications include term rewriting systems, as well as the manipulation of symbolic expressions, abstract syntax trees, and XML and JSON data. It also allows for an intuitive…

Programming Languages · Computer Science 2017-10-09 Manuel Krebber , Henrik Barthels , Paolo Bientinesi

The effectiveness of the machine learning methods for real-world tasks depends on the proper structure of the modeling pipeline. The proposed approach is aimed to automate the design of composite machine learning pipelines, which is…

This paper presents maplet, an open-source R package for the creation of highly customizable, fully reproducible statistical pipelines for omics data analysis, with a special focus on metabolomics-based methods. It builds on the…

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

DNA is a promising medium for digital information storage for its exceptional density and durability. While prior studies advanced coding theory, workflow design, and simulation tools, challenges such as synthesis costs, sequencing errors,…

Emerging Technologies · Computer Science 2025-10-06 Rakesh Thakur , Lavanya Singh , Yashika , Manomay Bundawala , Aruna Kumar

High-dimensional point cloud data arise across many scientific domains, especially single-cell biology. The shapes or topologies of these datasets determine the types of information that can be extracted. For example, clustered data…

Networking data analytics is increasingly used for enhanced network visibility and controllability. We draw the similarities between the Software Defined Networking (SDN) architecture and the MapReduce programming model. Inspired by the…

Networking and Internet Architecture · Computer Science 2016-09-13 Haoyu Song , Jun Gong , Hongfei Chen

Technologies for sequencing (reading) and synthesizing (writing) DNA have progressed on a Moore's law-like trajectory over the last three decades. This has motivated the idea of using DNA for data storage. Theoretically, DNA-based storage…

Emerging Technologies · Computer Science 2023-07-07 Ajay Manicka , Andrew Stephan , Sriram Chari , Gemma Mendonsa , Peyton Okubo , John Stolzberg-Schray , Anil Reddy , Marc Riedel

DNA methylation is a crucial regulator of gene transcription and has been linked to various diseases, including autoimmune diseases and cancers. However, diagnostics based on DNA methylation face challenges due to large feature sets and…

Machine Learning · Computer Science 2023-08-04 Pengcheng Xu , Jinpu Cai , Yulin Gao , Ziqi Rong

Pattern matching is a powerful tool for symbolic computations, based on the well-defined theory of term rewriting systems. Application domains include algebraic expressions, abstract syntax trees, and XML and JSON data. Unfortunately, no…

Programming Languages · Computer Science 2017-10-20 Manuel Krebber , Henrik Barthels , Paolo Bientinesi

Mapper, a topological algorithm, is frequently used as an exploratory tool to build a graphical representation of data. This representation can help to gain a better understanding of the intrinsic shape of high-dimensional genomic data and…

Genomics · Quantitative Biology 2023-07-19 Erik J. Amézquita , Farzana Nasrin , Kathleen M. Storey , Masato Yoshizawa

A systematic mapping is a way to identify, evaluate and interpret all relevant research available to a matter of particular research. One of the reasons for conducting systematic reviews is that it summarizes the existing evidence regarding…

Digital Libraries · Computer Science 2015-04-07 Marco Santos

Protein sequence generation for engineering requires samples that are biophysically plausible and, when targeting a family/domain, remain recognizable members while exploring within-family diversity. Current discrete generative models…

Computational Engineering, Finance, and Science · Computer Science 2026-05-25 Langzhang Liang , Ming Yang , Yi Feng , Junfan Li , Shirui Pan , Yinghui Xu , Tianlei Ying , Yizhen Zheng , Zenglin Xu

Long-range and highly accurate de novo assembly from short-read data is one of the most pressing challenges in genomics. Recently, it has been shown that read pairs generated by proximity ligation of DNA in chromatin of living tissue can…