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Assay for Transposase-Accessible Chromatin using high-throughput sequencing (ATAC-seq) is the popular technique using next-generation sequencing to measure chromatin accessibility and identify open chromatin regions. While read alignment shape information of next-generation sequencing data with intensity information has been used in various bioinformatics methods, few studies have focused on pure shape information alone. In this study, we investigated what types of ATAC-seq read alignment shapes are observed for the promoter region and whether the pure shape information was related or unrelated to other gene features. We introduced a novel concept and pipeline for handling the pure shape information of NGS data as probability distributions and quantifying their dissimilarities by information theory. Based on this concept, we demonstrate that the pure shape information of ATAC-seq data is correlated with chromatin openness and some gene characteristics. On the other hand, it is suggested that the pure information of ATAC-seq read alignment shape is unlikely to contain additional information to explain differences in RNA expression. Our study suggests that viewing the read alignment shape of NGS data as probability distributions enables us to capture the characteristics of the genome-wide landscape of such data in a non-parametric manner.
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http://dx.doi.org/10.1111/gtc.13082 | DOI Listing |
Eur J Haematol
September 2025
Haematology-Pathology Research Laboratory, Research Unit for Haematology and Research Unit for Pathology, University of Southern Denmark and Odense University Hospital, Odense, Denmark.
Background: Clonotyping of immunoglobulin heavy chain (IGH) gene rearrangements is critical for diagnosis, prognostication, and measurable residual disease monitoring in chronic lymphocytic leukemia (CLL). Although short-read next-generation sequencing (NGS) platforms, such as Illumina MiSeq, are widely used, they face challenges in spanning full VDJ rearrangements. Long-read sequencing via Oxford Nanopore Technologies (ONT) offers a potential alternative using the compact and cost-effective flow cells.
View Article and Find Full Text PDFAnal Biochem
September 2025
Vegetable and Fruit Improvement Center and Department of Horticultural Sciences Texas A&M University, College Station, TX 77843, USA; Molecular and Environmental Plant Sciences, Texas A&M University, College Station, TX 77843, USA. Electronic address:
Whole plasmid sequencing (WPS) using Nanopore long read sequencing has emerged as a cost-effective alternative for dideoxy sequencing methods. De novo sequence assembly for large plasmids, however, are not always successful and may produce large assembly gaps. Here we streamlined a reference guided alignment of WPS nanopore reads using galaxy platform.
View Article and Find Full Text PDFBrief Bioinform
September 2025
Department of Computer Science, Hanyang University, 222 Wangsimni-ro, Seoul 04763, Republic of Korea.
Motivation: Mobile genetic elements (MGEs) play an important role in facilitating the acquisition of antibiotic resistance genes (ARGs) within microbial communities, significantly impacting the evolution of antibiotic resistance. Understanding the mechanism and trajectory of ARG acquisition requires a comprehensive analysis of the ARG-carrying mobilome-a collective set of MGEs carrying ARGs. However, identifying the mobilome within complex microbiomes poses considerable challenges.
View Article and Find Full Text PDFPhys Life Rev
September 2025
Institute of Cognitive Sciences and Technologies, National Research Council, Rome, Italy. Electronic address:
We present a novel computational model employing hierarchical active inference to simulate reading and eye movements. The model characterizes linguistic processing as inference over a hierarchical generative model, facilitating predictions and inferences at various levels of granularity, from syllables to sentences. Our approach combines the strengths of large language models for realistic textual predictions and active inference for guiding eye movements to informative textual information, enabling the testing of predictions.
View Article and Find Full Text PDFSci Total Environ
September 2025
Department of Biology, The Pennsylvania State University, University Park, PA 16802, USA; Huck Institutes of the Life Sciences, The Pennsylvania State University, University Park, PA 16801, USA. Electronic address:
Wastewater surveillance is increasingly an effective public health tool for responding to epidemics and preparing for annual cycles of respiratory illnesses. We measured genetic markers from Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), influenza A virus (IAV) and influenza B virus (IBV) in untreated wastewater of a university campus and its local residential community over a four-year period using digital Polymerase Chain Reaction (PCR) methods. These data were then analyzed and compared to clinical case data reported to the state by zip code.
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