keyword
https://read.qxmd.com/read/38610953/the-application-of-long-read-sequencing-to-cancer
#21
REVIEW
Luca Ermini, Patrick Driguez
Cancer is a multifaceted disease arising from numerous genomic aberrations that have been identified as a result of advancements in sequencing technologies. While next-generation sequencing (NGS), which uses short reads, has transformed cancer research and diagnostics, it is limited by read length. Third-generation sequencing (TGS), led by the Pacific Biosciences and Oxford Nanopore Technologies platforms, employs long-read sequences, which have marked a paradigm shift in cancer research. Cancer genomes often harbour complex events, and TGS, with its ability to span large genomic regions, has facilitated their characterisation, providing a better understanding of how complex rearrangements affect cancer initiation and progression...
March 25, 2024: Cancers
https://read.qxmd.com/read/38610321/fast-fabrication-nanopores-on-a-pmma-membrane-by-a-local-high-electric-field-controlled-breakdown
#22
JOURNAL ARTICLE
Shaoxi Fang, Delin Zeng, Shixuan He, Yadong Li, Zichen Pang, Yunjiao Wang, Liyuan Liang, Ting Weng, Wanyi Xie, Deqiang Wang
The sensitivity and accuracy of nanopore sensors are severely hindered by the high noise associated with solid-state nanopores. To mitigate this issue, the deposition of organic polymer materials onto silicon nitride (SiNx) membranes has been effective in obtaining low-noise measurements. Nonetheless, the fabrication of nanopores sub-10 nm on thin polymer membranes remains a significant challenge. This work proposes a method for fabricating nanopores on polymethyl methacrylate (PMMA) membrane by the local high electrical field controlled breakdown, exploring the impact of voltage and current on the breakdown of PMMA membranes and discussing the mechanism underlying the breakdown voltage and current during the formation of nanopores...
March 26, 2024: Sensors
https://read.qxmd.com/read/38609404/advancing-pathogen-surveillance-by-nanopore-sequencing-and-genotype-characterization-of-acheta-domesticus-densovirus-in-mass-reared-house-crickets
#23
JOURNAL ARTICLE
Fang Shiang Lim, Joel González-Cabrera, Jens Keilwagen, Regina G Kleespies, Johannes A Jehle, Jörg T Wennmann
Rapid and reliable detection of pathogens is crucial to complement the growing industry of mass-reared insects, in order to safeguard the insect colonies from outbreak of diseases, which may cause significant economic loss. Current diagnostic methods are mainly based on conventional PCR and microscopic examination, requiring prior knowledge of disease symptoms and are limited to identifying known pathogens. Here, we present a rapid nanopore-based metagenomics approach for detecting entomopathogens from the European house cricket (Acheta domesticus)...
April 12, 2024: Scientific Reports
https://read.qxmd.com/read/38608751/comprehensive-transcriptome-sequencing-of-silkworm-midguts-uncovering-extensive-isoform-diversity-and-alternative-splicing-in-bmnpv-sensitive-and-bmnpv-resistant-strains
#24
JOURNAL ARTICLE
Min Tang, Yi Liu, Hantao Zhang, Lindan Sun, Peng Lü, Keping Chen
The silkworm, Bombyx mori, stands out as one of the few economically valuable insects within the realm of model organisms. However, Bombyx mori nucleopolyhedrovirus (BmNPV) poses a significant threat, decreasing the quality and quantity of silkworm cocoons. Over the past few decades, a multitude of researchers has delved into the mechanisms that underlie silkworm resistance to BmNPV, employing diverse methodologies and approaching the problem from various angles. Despite this extensive research, the role of alternative splicing (AS) in the silkworm's response to BmNPV infection has been largely unexplored...
April 10, 2024: Journal of Invertebrate Pathology
https://read.qxmd.com/read/38608738/advancements-in-long-read-genome-sequencing-technologies-and-algorithms
#25
REVIEW
Elena Espinosa, Rocio Bautista, Rafael Larrosa, Oscar Plata
The recent advent of long read sequencing technologies, such as Pacific Biosciences (PacBio) and Oxford Nanopore technology (ONT), have led to substantial improvements in accuracy and computational cost in sequencing genomes. However, de novo whole-genome assembly still presents significant challenges related to the quality of the results. Pursuing de novo whole-genome assembly remains a formidable challenge, underscored by intricate considerations surrounding computational demands and result quality. As sequencing accuracy and throughput steadily advance, a continuous stream of innovative assembly tools floods the field...
April 10, 2024: Genomics
https://read.qxmd.com/read/38608295/integrated-in-plane-nanofluidic-devices-for-resistive-pulse-sensing
#26
REVIEW
Tanner W Young, Michael P Kappler, Ethan D Call, Quintin J Brown, Stephen C Jacobson
Single-entity (or digital) measurements enhance sensitivity (10- to 100-fold improvement) and uncover heterogeneity within a population (one event in 100 to 10,000). Many biological systems are significantly influenced by rare or infrequent events, and determining what species is present, in what quantity, and role of that species is critically important to unraveling many questions. To develop these measurement systems, resistive-pulse sensing is used as a label-free, single-particle detection technique and can be combined with a range of functional elements, e...
April 12, 2024: Annual Review of Analytical Chemistry
https://read.qxmd.com/read/38608279/streamlining-remote-nanopore-data-access-with-slow5curl
#27
JOURNAL ARTICLE
Bonson Wong, James M Ferguson, Jessica Y Do, Hasindu Gamaarachchi, Ira W Deveson
BACKGROUND: As adoption of nanopore sequencing technology continues to advance, the need to maintain large volumes of raw current signal data for reanalysis with updated algorithms is a growing challenge. Here we introduce slow5curl, a software package designed to streamline nanopore data sharing, accessibility, and reanalysis. RESULTS: Slow5curl allows a user to fetch a specified read or group of reads from a raw nanopore dataset stored on a remote server, such as a public data repository, without downloading the entire file...
January 2, 2024: GigaScience
https://read.qxmd.com/read/38606686/addressing-challenges-in-ion-selectivity-characterization-in-nanopores
#28
JOURNAL ARTICLE
Shouwei Zhang, Jinfeng Wang, Andriy Yaroshchuk, Qiujiao Du, Pengyang Xin, Merlin L Bruening, Fan Xia
Ion selectivity is the basis for designing smart nanopore/channel-based devices, e.g., ion separators and biosensors. Quantitative characterization of ion selectivities in nanopores often employs the Nernst or Goldman-Hodgkin-Katz (GHK) equation to interpret transmembrane potentials. However, the direction of the measured transmembrane potential drop is not specified in these equations, and selectivity values calculated using absolute values of transmembrane potentials do not directly reveal the ion for which the membrane is selective...
April 12, 2024: Journal of the American Chemical Society
https://read.qxmd.com/read/38606340/a-full-length-18s-ribosomal-dna-metabarcoding-approach-for-determining-protist-community-diversity-using-nanopore-sequencing
#29
JOURNAL ARTICLE
Chetan C Gaonkar, Lisa Campbell
Protist diversity studies are frequently conducted using DNA metabarcoding methods. Currently, most studies have utilized short read sequences to assess protist diversity. One limitation of using short read sequences is the low resolution of the markers. For better taxonomic resolution longer sequences of the 18S rDNA are required because the full-length has both conserved and hypervariable regions. In this study, a new primer pair combination was used to amplify the full-length 18S rDNA and its efficacy was validated with a test community and then validated with field samples...
April 2024: Ecology and Evolution
https://read.qxmd.com/read/38605332/plasma-extracellular-vesicles-in-meningioma-patients-following-radiotherapy-as-liquid-biopsy-a-prospective-explorative-biomarker-study-aro-2023-05-ag-nro-07
#30
JOURNAL ARTICLE
Maximilian Y Deng, Amanda Salviano da Silva, Pauline Carlotta Göller, Laila König, Henning Schäfer, Cecile Maire, Adriane Lentz-Hommertgen, Thomas Held, Sebastian Regnery, Tanja Eichkorn, Florian Stritzke, Lukas Bauer, Daniel Schnell, Klaus Herfarth, Andreas von Deimling, Sandro Krieg, Antje Wick, Wolfgang Wick, Anca Grosu, Jürgen Debus, Felix Sahm, Franz Ricklefs
BACKGROUND: While surgical resection remains the primary treatment approach for symptomatic or growing meningiomas, radiotherapy represents an auspicious alternative in patients with meningiomas not safely amenable to surgery. Biopsies are often omitted in light of potential postoperative neurological deficits, resulting in a lack of histological grading and (molecular) risk stratification. In this prospective explorative biomarker study, extracellular vesicles in the bloodstream will be investigated in patients with macroscopic meningiomas to identify a biomarker for molecular risk stratification and disease monitoring...
April 11, 2024: BMC Cancer
https://read.qxmd.com/read/38605126/combined-approaches-including-long-read-sequencing-address-the-diagnostic-challenge-of-hydin-in-primary-ciliary-dyskinesia
#31
JOURNAL ARTICLE
Andrew Fleming, Miranda Galey, Lizi Briggs, Matthew Edwards, Claire Hogg, Shibu John, Sam Wilkinson, Ellie Quinn, Ranjit Rai, Tom Burgoyne, Andy Rogers, Mitali P Patel, Paul Griffin, Steven Muller, Siobhan B Carr, Michael R Loebinger, Jane S Lucas, Anand Shah, Ricardo Jose, Hannah M Mitchison, Amelia Shoemark, Danny E Miller, Deborah J Morris-Rosendahl
Primary ciliary dyskinesia (PCD), a disorder of the motile cilia, is now recognised as an underdiagnosed cause of bronchiectasis. Accurate PCD diagnosis comprises clinical assessment, analysis of cilia and the identification of biallelic variants in one of 50 known PCD-related genes, including HYDIN. HYDIN-related PCD is underdiagnosed due to the presence of a pseudogene, HYDIN2, with 98% sequence homology to HYDIN. This presents a significant challenge for Short-Read Next Generation Sequencing (SR-NGS) and analysis, and many diagnostic PCD gene panels do not include HYDIN...
April 11, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38603798/-all-in-one-strategy-for-achieving-superprotonic-conductivity-by-incorporating-strong-acids-into-a-robust-imidazole-linked-covalent-organic-framework
#32
JOURNAL ARTICLE
Tian-Xiang Luan, Pengtu Zhang, Qiurong Wang, Xin Xiao, Yijing Feng, Shiling Yuan, Pei-Zhou Li, Qiang Xu
The fabrication of solid-state proton-conducting electrolytes possessing both high performance and long-life reusability is significant but challenging. An "all-in-one" composite, H 3 PO 4 @PyTFB-1-SO 3 H , including imidazole, sulfonic acid, and phosphoric acid, which are essential for proton conduction, was successfully prepared by chemical post-modification and physical loading in the rationally pre-synthesized imidazole-based nanoporous covalent organic framework (COF), PyTFB-1 . The resultant H 3 PO 4 @PyTFB-1-SO 3 H exhibits superhigh proton conductivity with its value even highly up to 1...
April 11, 2024: Nano Letters
https://read.qxmd.com/read/38603597/simreaduntil-for-benchmarking-selective-sequencing-algorithms-on-ont-devices
#33
JOURNAL ARTICLE
Maximilian Mordig, Gunnar Rätsch, André Kahles
MOTIVATION: The Oxford Nanopore Technologies (ONT) ReadUntil API enables selective sequencing, which aims to selectively favor interesting over uninteresting reads, e.g., to deplete or enrich certain genomic regions. The performance gain depends on the selective sequencing decision-making algorithm (SSDA) which decides whether to reject a read, stop receiving a read, or wait for more data. Since real runs are time-consuming and costly, simulating the ONT sequencer with support for the ReadUntil API is highly beneficial for comparing and optimizing new SSDAs...
April 11, 2024: Bioinformatics
https://read.qxmd.com/read/38603523/human-telomere-length-is-chromosome-end-specific-and-conserved-across-individuals
#34
JOURNAL ARTICLE
Kayarash Karimian, Aljona Groot, Vienna Huso, Ramin Kahidi, Kar-Tong Tan, Samantha Sholes, Rebecca Keener, John F McDyer, Jonathan K Alder, Heng Li, Andreas Rechtsteiner, Carol W Greider
Short telomeres cause age-related disease and long telomeres predispose to cancer; however, the mechanisms regulating telomere length are unclear. We developed a nanopore-based method, Telomere Profiling, to determine telomere length at nearly single nucleotide resolution. Mapping telomere reads to chromosome ends showed chromosome end-specific length distributions that could differ by more than six kilobases. Telomere lengths in 147 individuals showed certain chromosome ends were consistently longer or shorter...
April 11, 2024: Science
https://read.qxmd.com/read/38602570/multifunctional-mof-cof-nanoparticles-mediated-perovskite-films-management-toward-sustainable-perovskite-solar-cells
#35
JOURNAL ARTICLE
Yayu Dong, Jian Zhang, Hongyu Zhang, Wei Wang, Boyuan Hu, Debin Xia, Kaifeng Lin, Lin Geng, Yulin Yang
Although covalent organic frameworks (COFs) with high π-conjugation have recently exhibited great prospects in perovskite solar cells (PSCs), their further application in PSCs is still hindered by face-to-face stacking and aggregation issues. Herein, metal-organic framework (MOF-808) is selected as an ideal platform for the in situ homogeneous growth of a COF to construct a core-shell MOF@COF nanoparticle, which could effectively inhibit COF stacking and aggregation. The synergistic intrinsic mechanisms induced by the MOF@COF nanoparticles for reinforcing intrinsic stability and mitigating lead leakage in PSCs have been explored...
April 11, 2024: Nano-Micro Letters
https://read.qxmd.com/read/38602480/direct-identification-of-complex-glycans-via-a-highly-sensitive-engineered-nanopore
#36
JOURNAL ARTICLE
Guangda Yao, Yinping Tian, Wenjun Ke, Jie Fang, Shengzhou Ma, Tiehai Li, Xi Cheng, Bingqing Xia, Liuqing Wen, Zhaobing Gao
The crucial roles that glycans play in biological systems are determined by their structures. However, the analysis of glycan structures still has numerous bottlenecks due to their inherent complexities. The nanopore technology has emerged as a powerful sensor for DNA sequencing and peptide detection. This has a significant impact on the development of a related research area. Currently, nanopores are beginning to be applied for the detection of simple glycans, but the analysis of complex glycans by this technology is still challenging...
April 11, 2024: Journal of the American Chemical Society
https://read.qxmd.com/read/38600862/novel-alu-insertion-in-the-zeb2-gene-causing-mowat-wilson-syndrome
#37
Maria Barington, Mads Bak, Kristín Rós Kjartansdóttir, Thomas van Overeem Hansen, Ulf Birkedal, Elsebet Østergaard, Hanne Buciek Hove
Alu elements are short, interspersed elements located throughout the genome, playing a role in human diversity, and occasionally causing genetic diseases. Here, we report a novel Alu insertion causing Mowat-Wilson syndrome, a rare neurodevelopmental disorder, in an 8-year-old boy displaying the typical clinical features for Mowat-Wilson syndrome. The variant was not initially detected in genome sequencing data, but through deep phenotyping, which pointed to only one plausible candidate gene, manual inspection of genome sequencing alignment data enabled us to identify a de novo heterozygous Alu insertion in exon 8 of the ZEB2 gene...
April 11, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38600404/whole-genome-sequencing-analysis-of-komagataeibacter-nataicola-reveals-its-potential-in-food-waste-valorisation-for-cellulose-production
#38
JOURNAL ARTICLE
Muhammad Irhamni Haziqi Nasharudin, Shing-Wei Siew, Hajar Fauzan Ahmad, Nazira Mahmud
BACKGROUND: Komagataeibacter nataicola (K. nataicola) is a gram-negative acetic acid bacterium that produces natural bacterial cellulose (BC) as a fermentation product under acidic conditions. The goal of this work was to study the complete genome of K. nataicola and gain insight into the functional genes in K. nataicola that are responsible for BC synthesis in acidic environments. METHODS AND RESULT: The pure culture of K. nataicola was obtained from yeast-glucose-calcium carbonate (YGC) agar, followed by genomic DNA extraction, and subjected to whole genome sequencing on a Nanopore flongle flow cell...
April 11, 2024: Molecular Biology Reports
https://read.qxmd.com/read/38599814/-annual-progress-of-interventional-diagnosis-and-treatment-of-tuberculosis-in-2023
#39
REVIEW
S Yang, J Q Guo, T X Li, S J Tang
A series of studies on the interventional diagnosis and treatment of tuberculosis(TB)were carried out by domestic and foreign researchers in 2023. The combination of minimally invasive interventional procedures with endoscopes, guidance, material acquisition techniques by multiple ways and multichannel and highly accurate laboratory testing techniques is becoming more and more widely practiced clinically, which has played an important role in the accurate diagnosis of problematic TB. Diagnostic procedures for pulmonary TB, tracheobronchial TB, mediastinal lymphatic TB and extrapulmonary TB included conventional flexible bronchoscopy and specific types of bronchoscopy(ultrathin bronchoscopy and endobronchial ultrasound), transbronchial needle aspiration biopsy, endobronchial ultrasound and virtual bronchoscopic navigation system-guided forceps biopsy, thoracoscopic cryobiopsy of pleura, percutaneous biopsy, and so on...
April 12, 2024: Chinese Journal of Tuberculosis and Respiratory Diseases
https://read.qxmd.com/read/38599390/comparative-evaluation-of-analytical-pipelines-for-illumina-short-and-nanopore-long-read-16s-rrna-gene-amplicon-sequencing-with-mock-microbial-communities
#40
JOURNAL ARTICLE
Yusuke Ota, Kei Yasunaga, Samiratu Mahazu, Isaac Prah, Satoshi Nagai, Takaya Hayashi, Masato Suzuki, Mitsunori Yoshida, Yoshihiko Hoshino, Yukihiro Akeda, Toshihiko Suzuki, Yoshiaki Gu, Ryoichi Saito
Utility of a recently developed long-read pipeline, Emu, was assessed using an expectation-maximization algorithm for accurate read classification. We compared it to conventional short- and long-read pipelines, using well-characterized mock bacterial samples. Our findings highlight the necessity of appropriate data-processing for taxonomic descriptions, expanding our understanding of the precise microbiome.
April 8, 2024: Journal of Microbiological Methods
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