In this paper, we investigate througth a premilinary study the influence of repeat elements during the assembly process. We analyze the link between the presence and the nature of one type of repeat element, called transposable element (TE) and misassembly events in genome assemblies. We propose to improve assemblies by taking into account the presence of repeat elements, including TEs, during the scaffolding step. We analyze the results and relate the misassemblies to TEs before and after correction.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1142/S0219720021400163 | DOI Listing |
Funct Integr Genomics
January 2025
Children's Medical Center, Peking University First Hospital, No.5 Le Yuan Road, Daxing District, 100034, Beijing, China.
Long-read sequencing has emerged as a transformative technology in recent years, offering significant potential for the molecular diagnosis of unresolved genetic disorders. Despite its promise, the comprehensive detection and clinical annotation of genomic variants remain intricate and technically demanding. We present SUMMER, an integrated and structured workflow specifically designed to process raw Nanopore sequencing reads.
View Article and Find Full Text PDFBiotechnol J
January 2025
Department of Chemical and Biomolecular Engineering, University of Delaware, Newark, Delaware, USA.
The implementation of site-specific integration (SSI) systems in Chinese hamster ovary (CHO) cells for the production of monoclonal antibodies (mAbs) can alleviate concerns associated with production instability and reduce cell line development timelines. SSI cell line performance is driven by the interaction between genomic integration location, clonal background, and the transgene expression cassette, requiring optimization of all three parameters to maximize productivity. Systematic comparison of these parameters has been hindered by SSI platforms involving low-throughput enrichment strategies, such as cell sorting.
View Article and Find Full Text PDFSci Data
January 2025
Fujian Provincial Key Laboratory of Haixia Applied Plant Systems Biology, Haixia Institute of Science and Technology, Fujian Agriculture and Forestry University, College of Life Sciences, Fuzhou, 350002, China.
Arhopalus unicolor is a carrier of the pine wood nematode (PWN), which causes pine wilt disease, killing pine trees and causing considerable economic and environmental losses. While the A. unicolor mitochondrial genome has been published, a high-quality genome assembly and annotation of A.
View Article and Find Full Text PDFAnal Chim Acta
February 2025
Fundación IMDEA Nanociencia, Madrid, Spain; Division of Hematopoietic Innovative Therapies, Innovative Therapies Unit. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT), 28040, Madrid, Spain; Advanced Therapies Unit, Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD, UAM), 28040, Madrid, Spain. Electronic address:
Background: The detection of genetic sequences represents the gold standard procedure for species discrimination, genetic characterisation of tumours, and identification of pathogens. The development of new molecular detection methods, accessible and cost effective, is of great relevance. Biosensors based on plasmonic nanoparticles, such as gold nanoparticles (AuNPs), provide a powerful and versatile platform for highly sensitive, economic, user-friendly and label-free sensing.
View Article and Find Full Text PDFJ Mol Biol
January 2025
Department of Biology, Carnegie Mellon University, Pittsburgh, PA 15213, USA. Electronic address:
Alternative Lengthening of Telomeres (ALT) pathway is a telomerase-independent mechanism that utilizes homology-directed repair (HDR) to sustain telomere length in specific cancers. Biomolecular condensates, such as ALT-associated promyelocytic leukemia nuclear bodies (APBs), have emerged as critical players in the ALT pathway, supporting telomere maintenance in ALT-positive cells. These condensates bring together DNA repair proteins, telomeric repeats, and other regulatory elements.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!